Archive for December, 2019

At the annual San Antonio Breast Cancer Symposium, MSK investigators presented the latest research on detection and screening methods for people at high risk;immunotherapy for breast cancer;and the underlying causes of resistance to targeted therapies, among other topics.

Here are some of the noteworthy studies that featured contributions from MSK investigators.

Mammography screening has been shown to reduce breast cancer mortality by about 30% in the general population. But in women at an increased risk for the disease, additional imaging is recommended. This group includes people who carry a BRCA or other genetic mutation. Other risk factors include a family or personal history of breast cancer, certain high-risk lesions, or having undergone chest radiation at a young age.

At SABCS, diagnostic radiologist Maxine Jochelson discussed newer imaging technologies and the advantages they have over mammograms alone for detecting cancer in high-risk women. People in the high-risk group may need supplemental imaging to improve early detection, Dr. Jochelson says.

She explains that this approach would incorporate vascular imaging techniques. These methods can highlight areas of increased blood flow, a hallmark of tumor growth. This technology includes MRI and contrast-enhanced mammography. It can find tumors that mammograms may miss. Although vascular imaging costs more and generally takes longer to perform, its use is justified in high-risk women because ofthe increased chance of finding cancer, she says.

Mammograms & Other Types of Breast Exams

Learn about the different types of breast exams that can help detect breast cancer at its earliest stages, before symptoms develop.

Its undisputed that vascular imaging is better at detecting cancers than purely anatomical imaging, Dr. Jochelson adds. She emphasizes the need to fine-tune imaging strategies based on each persons specific risk factors.

Some of the imaging approaches she discussed during her presentation include:

We need to continue improving ways of assessing an individuals risk so we can stratify them and determine which type of imaging will most benefit each patient, Dr. Jochelson says. The true test will be studies to demonstrate that these newer technologies actually save lives.

Immunotherapy that uses genetically engineered cells, such as chimeric antigen receptor (CAR) T cells, has proven effective in treating some forms of blood cancer. So far, efforts to create immune cells that can effectively target solid tumors, including breast cancer, have been disappointing. At SABCS, MSK physician-scientist Christopher Klebanoff presented research from his lab on a novel tactic for enabling the immune system to better target and kill breast cancer cells while sparing healthy tissue.

We believe a major limiting challenge in successfully developing immunotherapy for breast cancer has been the identification of antigens. These are targets that the immune system can recognize, Dr. Klebanoff explains. Weve become very interested in the possibility that common mutations in breast cancer may produce antigens that can be recognized as foreign by the immune system.

The Klebanoff labs current research focuses on a gene called PIK3CA, which is mutated in about 40 to 45% of hormone receptor-positive breast cancers. It is also mutated in some HER2-positive and triple-negative breast cancers. Mutations inPIK3CA cause cancer cells to grow in an uncontrolled manner. In May 2019, the US Food and Drug Administration approved a pill called alpelisib (Piqray), which targets mutations in this gene. However, the drug has the potential for significant side effects, and tumors ultimately develop resistance to this medicine. Dr. Klebanoff and his colleague Smita Chandran, a senior research scientist in his lab and the scientific lead on this study, decided to look for a way to target antigens created by this mutation using immune cells designed to recognize them.

We believe a major limiting challenge in successfully developing immunotherapy for breast cancer has been the identification of antigens.

A challenging aspect of this approach was that mutated PIK3CA is found on the inside of cancer cells, allowing it to hide from many components of the immune system, such as antibodies. Physiological processes present in all cells, including cancer cells, allow mutated PIK3CA to be broken down into shorter fragments and loaded onto a molecular basket, called HLA, which is shuttled to the surface of the cell, Dr. Klebanoff says. This process allows immune cells to functionally look inside of other cells.

The researchers identified a specialized molecule, known as a T cell receptor, that has the ability to recognize this mutated PIK3CA-HLA complex. Immune cells specific for this complex recognize the target cell as being cancerous and destroy it. Healthy cells without the mutation remain untouched. The T cell receptors are matched to a patients unique complement of HLA molecules. As with a stem cell transplant, HLA must be matched for this immunotherapy to be effective.

Right now we are focused on the most common HLA types that are seen in a large proportion of our patients. The big-picture goal is to build a library of T cell receptors that can work in people with different HLA molecules and can target other common cancer mutations, Dr. Chandran explains. This work is still early and so far has only been done in the laboratory and not in humans. We are nonetheless excited about the prospect of working toward developing a more effective and less toxic immunotherapy customized to the genetic attributes of a patients tumor.

CDK4/6 inhibitors are an important class of drugs to treat estrogen receptor-positive breast cancer. These drugs stop the growth of breast cancer cells by targeting enzymes that are important in cell division. They are given in addition to hormone therapy. But about 10 to 15% of people who get these drugs dont respond to CDK4/6 inhibitors, and others later develop resistance.

MSK physician-scientist Sarat Chandarlapaty has been studying why this is the case. Understanding this resistance could contribute to the development of new targeted drugs. In December 2018, he published a study that reported on two genes that play a critical role in promoting this resistance. At SABCS, he presented his latest research on this area.

Weve been delving deeper into the role of these genes, as well as others, to try to understand some of the principles that could guide the next generation of therapies, Dr. Chandarlapaty says. By working out these detailed mechanisms, we will have the tools needed to design more potent and selective inhibitors for these refractory breast cancers.

Dr. Chandarlapaty explains that because tumors outsmart CDK4/6 inhibitors in different ways, he doesnt expect to find a one-size-fits-all approach for new drugs. There are some key principles for why these drugs fail, he says. For some tumors, making a more potent drug of the same general class will work. Other tumors bypass the pathway in a way that renders many of the old therapies weve used ineffective. For them, a completely different approach is needed.

Researchers Identify Why Women May Develop Resistance to a New Class of Breast Cancer Drugs

Clues emerge about why promising new breast cancer drugs sometimes dont work and what might be done about it.

Read more:
Updates from SABCS 2019: Detection and Screening, Immunotherapy Advances, and Therapy Resistance - On Cancer - Memorial Sloan Kettering

When Brooke Brumfield wasnt battling morning sickness, she craved nachos. Like many first-time expectant mothers, she was nervous and excited about her pregnancy. She had just bought a house with her husband, a wildland firefighter who had enrolled in paramedic school to transition to firefighting closer to home. Everything was going according to plan until 20 weeks into Brumfields pregnancy, when she lost her job at a financial technology startup and, with it, her salary and three months paid maternity leave. After building a new business to support her family, she had clients, but childcare was limited, and her husbands schedule was always shifting. By the time her baby arrived, everything was beyond overwhelming, Brumfield says. I pretty much felt like a truck hit me.

Brumfield had heard stories from friends and family about a way to minimize the stress and emotional fallout of the postpartum period: consuming her placenta, the vascular organ that nourishes and protects the fetus during pregnancy and is expelled from the body after birth. The women swore by the results. They said their milk supply improved and their energy spiked. The lows caused by plummeting hormone levels didnt feel as crushing, they explained.

Brumfield enlisted her doula who, for a fee, would steam, dehydrate, and pulverize her placenta, pouring the fine powder into small capsules. She swallowed her placenta pills for about six weeks after delivering her daughter. She said they helped her feel more even, less angry and emotional. When her milk supply dipped, she says, I re-upped my intake and [the problem] was solved.

Social scientists and medical researchers call the practice of consuming ones own placenta placentophagy. Once confined to obscure corners of alternative medicine and the countercultures crunchier communities, it has been picked up by celebrities (Kourtney and Kim Kardashian, January Jones, Mayim Bialik, Alicia Silverstone, Chrissy Teigen) and adopted by the wider public.

Although there are no official estimates of how many women ingest their placenta after delivery, the internet is increasingly crowded with placenta service providers preparers of pills, smoothies, and salves to support new mothers in the slog to recovery. But the purported benefits are disputed. Depending on whom you ask, placenta-eating is either medicine or a potentially dangerous practice based on myth. How did this practice go mainstream, despite a lack of reported scientific or clinical benefits? The answer may say much more about the world new mothers live in than it does about the placenta.

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In any doctors office or primary care setting, a provider treating a patient will often mention new research that supports a recommended treatment. A pregnant woman diagnosed with preeclampsia, for example, might learn from her health care provider that low-dose aspirin has been shown in recent studies to reduce serious maternal or fetal complications. But the basis for placentophagy, a practice that lies beyond the boundaries of biomedicine, is a 16th-century text.

Li Shizhens Compendium of Materia Medica, or Bencao gangmu, first published in 1596, is a Chinese pharmacopoeia and the most celebrated book in the Chinese tradition of pharmacognosy, or the study of medicinal plants. It appears on the websites of placenta service providers and in the pages of the standard references for practitioners of traditional Chinese medicine (TCM), a millennia-old medical system with a growing global reach.

A physician and herbalist, Li drew on his empirical experiences treating patients but also on anecdotes, poetry, and oral histories. His encyclopedia of the natural world is a textual cabinet of natural curiosities, according to historian Carla Nappis The Monkey and the Inkpot, a study of Lis life and work. Containing nearly 1,900 substances, from ginseng and peppercorn to dragons bone and turtle sperm, Lis book describes dried human placenta as a drug that invigorated people, and was used to treat impotence and infertility, among other conditions. For advocates of placentophagy, this book serves as ethnomedical proof of the long-standing history of the practice and by extension, its efficacy and safety.

But like many claims to age-old provenance, the origins of placentophagy as a postpartum treatment are disputed. Sabine Wilms, an author and translator of more than a dozen books on Chinese medicine, scrutinized classical Chinese texts on gynecology and childbirth and told me theres no written evidence at all of a woman consuming her own placenta after birth as a mainstream traditional practice in China, even if formulas containing dried human placenta were prescribed for other conditions, as described in Lis book.

Beyond Lis 400-year-old encyclopedia, evidence of postpartum placenta-eating is nearly impossible to find in the historical record. Womens voices are notoriously difficult to unearth from the archives, and even in the 19th century, the details of childbirth and what happened to the placenta went largely unreported. But when two University of Nevada, Las Vegas anthropologists pored over ethnographic data from 179 societies, they discovered a conspicuous absence of cultural traditions associated with maternal placentophagy.

The earliest modern recorded evidence of placentophagy appears in a June 1972 issue of Rolling Stone. I pushed the placenta into a pot, wrote an anonymous author, responding to the magazines call asking readers to share stories from their personal lives. It was magnificent purple and red and turquoise. Describing her steamed placenta as wonderfully replenishing and delicious, she recounted eating and sharing it with friends after delivering her son.

Raven Lang, who is credited with reviving the oldest known and most commonly used recipe for postpartum placenta preparation, witnessed placentophagy while helping women as a homebirth midwife and TCM practitioner in California in the early 1970s. These women lived off the land, she explained, and might have drawn inspiration from livestock and other animals in their midst.

It wasnt long before placentophagy made its way beyond Californias hippie enclaves. In 1984, Mary Field, a certified midwife and registered nurse in the U.K., recounted eating her placenta, an unmentionable experience, to ward off postpartum depression after the birth of her second child. I remain secretive, Field wrote, for the practice verges on that other taboo cannibalism as it is human flesh and a part of your own body. She recalled choking down her own placenta. I could not bear to chew or taste it.

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The rise of encapsulation technology, developed for the food industry and picked up by placenta service providers in the early aughts, put an end to visceral experiences like Fields. No longer must women process their own placenta or subject themselves to its purported offal-like flavor. Tidy, pre-portioned placenta pills resembling vitamins can be prepared by anyone with access to a dehydrator, basic supplies, and online training videos.

The boom in placentophagy highlights a longstanding puzzle for researchers. Almost every non-human mammal consumes its placenta after delivery, for reasons that remain unclear to scientists. Why did humans become the exception to this nearly universal mammalian rule? For Daniel Benyshek, an anthropologist and co-author of the UNLV study that found no evidence of placentophagy being practiced anywhere in the world, the human exception raises a red flag: It suggests the reasons that humans have eschewed placentophagy arent just cultural or symbolic, but adaptive that theres something dangerous about it, or at least there has been in our evolutionary history.

Scientific data on the potential benefits and risks of placentophagy is scarce, but a few small studies suggest that any nutrients contained in cooked or encapsulated placental tissue are unlikely to be absorbed into the bloodstream at concentrations large enough to produce significant health effects. Whether and in what quantity reproductive hormones such as estrogen survive placental processing has been little studied, but ingesting them after birth could have negative effects on milk production and may also increase the risk of blood clots.

Yet placental encapsulation services which remain unregulated in the U.S. have found a receptive audience of American consumers. (The food safety agency of the European Union declared the placenta a novel food in 2015, effectively shuttering the encapsulation business on the continent.) Mostly small and women-owned, placenta service businesses position themselves as an alternative to a highly medicalized, bureaucratized birthing process that has often neglected the needs of women. Postpartum checkups focus narrowly on pelvic examinations and contraceptive education. One survey of U.S. mothers found that one in three respondents who received a postpartum checkup felt that their health concerns were not addressed. In contrast, placenta service providers speak the language of empowerment.

That language can resonate with new mothers like Brumfield, who face overwhelming pressures to care for a newborn, nurse on demand, manage a household, and return to work amid anxieties about postpartum depression, dwindling energy, and inadequate milk supply.

In some ways, placenta consumption is motivated by a desire to perform good mothering, wrote scholars from Denmark and the United States in a paper on the emergence of the placenta economy. It reflects the idea of maternity as a neoliberal project, in which new mothers are responsible for their own individual well-being as well as that of their babies, they added.

Meanwhile, rates of postpartum depression keep climbing, maternity leave policies are stingy, and child care costs are often prohibitive. Its easy to see why many women would be eager to seek help, real or perceived, wherever they can find it.

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Daniela Blei is a historian, writer, and book editor based in San Francisco.

This article was originally published on Undark. Read the original article.

Read more here:
Medicine or myth? The dubious benefits of placenta-eating - Salon

Few sports are as fast and furious as roller derby. The hour-long game unfolds in frenetic two-minute bursts as two teams race anti-clockwise around an oval track.Each team has a jammer aiming to pass four opposing blockers, and they score points for each opponent they lap.Blockers can obstruct the path with their torso or push opponents off course with a swift nudge of their upper legs or upper arms. Jammers juke a sideways dummy move and whip where a team member grabs their hand and swing them forwards ahead of the pack.

Fans are addicted to the ferocious drama of the competition, but, as you would expect for any contact sport, injuries are commonplace.Jessica had just moved to the USA from France when she attended her first roller derby match. From that first game I really fell in love with it, she says. She started competing, eventually leading Team France in the 2011 World Cup, and she even met her wife through the game.

In the summer of 2016, Jessica was playing blocker for a team in the Bay Area, California. She was in front of the oppositions jammer, and just as she turned to check her position, an opposing blocker collided with her at high speed.As the blockers shoulder hit the right side of her chin, Jessica felt an extraordinary pain on the opposite side of her skull and fell to the floor. The sudden jerking movement of her head, she now knows, caused her brain to ricochet within the skull leading to the sharp pain and severe concussion.

Sharing the full story, not just the headlines

She didnt seek immediate medical care. When she had suffered concussion previously, her doctors advice was to take it easy for a few weeks before returning to play. And it had seemed to work fine.This time, however, she had continued headaches and sense of mental constriction a feeling of pressure, like a vice on the brain, she says no matter how much she rested. Concentration for any length of time was often extremely difficult, and she was sensitive to the bright light of computer and phone screens, meaning that she had to wear sunglasses at work.

She also experienced inexplicable dips in her mood; at work, she would sometimes have to go and cry in her car. There was nothing that would have prompted it, she says. And I was not somebody who cried very easily, so it was exceedingly alarming for me to suddenly have these bursts of tears happen from nowhere.

It is now three years since her injury, but Jessica still hasnt recovered fully from these symptoms. I havent given up hope, but at this point, its not like theres a clear path to being better, or a clear timeline of when that would be.

Could Jessica have been at a higher risk of concussion simply because of her sex? Compelling new research suggests this is a distinct possibility, with a growing recognition that male and female brains may respond to injuries very differently.This follows a wider growing concern about concussion, triggered, in part, by high-profile injuries in sports like soccer, American football, rugby and boxing.

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Concussion is changed neurological function as the result of a bump, blow or jolt to the head. The violent movement of the head causes a momentary release of various neurotransmitters that throws the brains signalling out of balance. It can also cause the neural tissue to swell and reduce the flow of blood to the brain and along with it, the glucose and oxygen starving our nerve cells of their fuel.

Immediate symptoms include seeing stars, feeling dizzy and confused, or losing consciousness entirely. Many people also suffer from post-concussion syndrome long after the event, with a constellation of lingering symptoms, including nausea, headaches, dizziness and mental confusion. These can last for weeks, months or even years. Some studies suggest that a concussion may also be accompanied by an increased risk of suicidal thinking, and there are concerns that repeated injuries could lead to long-term damage and brain degeneration.

The potential long-term impact of concussion is now well-known and has led many sports associations to change their rules and procedures to reduce the danger of injury. But there is low awareness of the potentially higher risks to female players and the possible need for differing diagnosis and treatment, including among healthcare professionals. At no point at any time when I was talking to physicians did they ever mention any potential difference [arising] from being a woman, says Jessica.

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Recent research, however, suggests that female athletes are not only more likely to sustain a concussion in any given sport; they also tend to have more severe symptoms, and to take longer to recover.Katherine Snedaker, founder of the non-profit campaign group Pink Concussions, believes that many like Jessica are invisible patients with an invisible injury and that means that they may struggle to get the support they need.

By shining a light on these differences, and understanding their causes, scientists and campaigners like Snedaker hope to improve the plight of all women struggling with the lingering and sometimes debilitating consequences that can arise from a single blow to the head.Given that millions of people a year sustain concussion around the world, and many more women are now taking up contact sports like rugby and soccer that might put them at greater risk of injury, this new understanding cannot come soon enough.

Womens brains may respond more severely to injury (Erin Aniker for Mosaic)

Concussion is thought to have first been distinguished from other types of brain injury more than 1,000 years ago, by the Persian physician Rhazes, but sex differences in concussion have only been the subject of serious research within the last two decades or so.

The delay perhaps reflects historic sexism within medicine, which has often neglected to investigate the possibility that female bodies may act differently from male bodies (besides the obvious differences, for example, in reproductive health). In the past, most clinical trials had included many more men than women, for instance though that has now improved. Most animal trials were also conducted on males, and it was only in 2014 that the US National Institutes of Health announced that studies it funded must use female as well as male animals, unless there were clear reasons to focus on one and not the other.

The sex differences in concussion were also obscured by the fact that many of these injuries are the result of accidents in sport, and girls and women were historically less likely to compete in events where concussion has attracted most attention.

Tracey Covassin, who is now based at Michigan State University, has been one of the leading researchers looking at potential sex differences in concussion. Canadian by birth, and inspired by her own love of ice hockey, when she first started out 20 years ago, she found next to no research on the subject.

There was nothing that really looked at females and concussion, because everything was about the NFL or the NHL, and concussions in male athletes or boxers.

To correct that deficit, Covassin turned first to the National Collegiate Athletic Associations injury records, to see how common concussion was among males and females within the same sports. In soccer, basketball and softball, for example, she found that female players are almost twice as likely to suffer a concussion as males.

Covassin and others then began to look at the effects of a concussion. They found that males and females are also likely to report different symptoms in the following days and weeks.

While male concussions are more likely to be followed by amnesia, for instance, female ones are more likely to lead to prolonged headaches, mental fatigue and difficulties with concentration, and mood changes.

Female athletes also seem to require more time for those symptoms to disappear. One study of 266 adolescents including soccer and American football players, wrestlers and skiers found that, on average, females took 76 days to recover, while males took 50 days.

As Esther, a student at Georgetown University in Washington, DC, who had a debilitating concussion while playing soccer when she was in the eighth grade, tells me: I just didnt really realise how serious it was. And then it wasnt really until the following day, when I returned to school as normal, that I couldnt really see the whiteboard. I felt so nauseous and had a horrible, horrible headache.

Some women have come forward stating they wish they had known their higher risk factor (Erin Aniker for Mosaic)

The symptoms lingered. Even at lunchtime, she says, it was a struggle to concentrate on what others were saying in the noise of the room, and watching a documentary in class gave her waves of nausea. Her post-concussion syndrome lasted for two and a half years, but, just as she was beginning to feel back on track, she suffered a new concussion (from falling down a flight of stairs) that led to further prolonged symptoms that shes still learning to cope with today, four years later. I think the symptoms that I still have now are kind of a cumulative effect.

Anna, an 18-year-old from New York City, sustained three concussions while playing basketball during her second and third years of high school. The third concussion was the most debilitating, resulting in her taking four to five months off school to recover.

I had terrible headaches, I wasnt able to properly think or put sentences together in a logical manner, she recalls.

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Some researchers have argued that many of the reported sex differences are simply the result of societal gender roles.

Maybe girls and women are more cautious about their health, and more likely to disclose symptoms, while boys and men have been conditioned to play through the pain? Evidence to support some kind of baseline difference in the self-reporting of symptoms is mixed, however.

Some studies have also used more objective measures of cognitive function, with one finding females were about 1.7 times as likely as males to show signs of cognitive impairment a few days after experiencing the concussion. This includes a much larger decline in reaction times. Concussed female athletes also tend to show greater deficits in visual memory (though not every study has been able to detect this difference).

Given this evidence, self-reporting cannot be the only reason for the sex differences, says Inga Koerte, a neurobiologist at Harvard Medical School and the Ludwig Maximilian University of Munich.

Following a concussion, female athletes also seem to perform worse than males on a test of the vestibular-ocular reflex which allows our eyes to fix on a target as our body moves.

These tests ask people to focus on a fixed point as they move their head up and down or side to side and then rate symptoms of headache, dizziness, nausea or feelings of fogginess. The close observation makes it hard for someone to hide their condition, says Covassin. So even if theyre trying to lie to you about it, they just dont look very good, she says. That should reduce any self-reporting bias, yet in this test females are still found to have worse symptoms than males.

Perhaps the assumption that boys and men are somehow more ambitious and competitive and therefore more likely to hide their symptoms is itself a reflection of some outdated stereotypes and implicit biases?

Snedaker thinks so. I think that womens pain has been discounted as it has been for other mental or other physical injuries.

She points to some evidence that women, in general, are less likely to be prescribed painkillers in hospital. A 2008 study of American patients undergoing cardiac surgery, for instance, found that women were more likely to be given sedatives than men, who were more likely to be given painkillers perhaps because doctors implicitly assume that womens distress is more emotional than physiological. Another study found that women reporting to the emergency room with abdominal pain were less likely to be prescribed painkillers than men with the same complaint.

Ramesh Raghupathi, a professor in neurobiology and anatomy at Drexel University in Philadelphia, is similarly sceptical of the idea that we can dismiss the sex differences in concussion so easily.

He says that he has come across many female athletes who play through their pain rather than give up on their sporting ambitions despite the risks that this involves. Especially at [high] levels of competition, girls at middle school, high school or college theyre just as likely to hide their injuries, he says.In the weeks before Jessicas concussion, she had sustained some minor impacts, but had chosen to return to play which may then have exacerbated the effects of the later injury. In hindsight, she now wishes she had taken more time out.

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Understanding exactly why women are more susceptible to concussion will be essential, if we are to reduce those risks. Recent research has focused on three main theories.

Some researchers have proposed that it may be due to the fact that female necks tend to be slimmer and less muscular than male ones.

Remember that the brain is free to move within the skull it is like jelly tightly packed into a Tupperware container and this means that any sharp movement of the head can cause it to shift around, potentially causing damage.For this reason, anything that helps to protect the skull from sharp movements should protect you from concussion and that includes a sturdier neck that is better able to buffer a blow.If you have a thicker neck, you have a stronger base, so the likelihood of head movement is much less, says Raghupathi.

Overall, the girth of a female neck is about 30 per cent smaller than a male, and this increases the potential acceleration of the head by as much as 50 per cent, according to one study.

Certain small anatomical differences can mean greater risks of injury for women (Erin Aniker for Mosaic)

The second idea that researchers have pointed to is some small anatomical differences within the brain itself. Female brains are thought to have slightly faster metabolisms than male ones, with greater blood flow to the head: essentially, they are slightly hungrier. And if a head injury momentarily disrupts that supply of glucose and oxygen, it could cause greater damage.

The third possibility lies in female sex hormones with some striking evidence that the risk of concussion changes with varying hormone levels during the menstrual cycle.Researchers at the University of Rochester School of Medicine and Dentistry, for instance, tracked the progress of 144 concussed women visiting six emergency departments in upstate New York and Pennsylvania.They found that injuries during the follicular phase (after menstruation and before ovulation) were less likely to lead to symptoms a month later, while an injury during the luteal phase (after ovulation and before menstruation) resulted in significantly worse outcomes.Exactly why this may be is still unclear, but it could relate to the rise and fall of progesterone levels during the cycle phases.

Previous research has shown that head injuries can temporarily disrupt the production of various hormones, including progesterone. During the luteal phase, progesterone levels are highest, and the researchers hypothesise that the sudden withdrawal due to head injury throws the brain off balance and contributes to the worse lingering symptoms. In the follicular phase, by contrast, progesterone levels are alreadylower and would not drop so dramatically meaning the resultant symptoms are less severe.

In line with this hypothesis, various studies have found that females taking contraceptive pills are also less likely to suffer severe symptoms following a concussion. Amy Herrold at Northwestern Universitys Feinberg School of Medicine, in Chicago, explains that oral contraceptives work by regulating the levels of sex hormones in the body. So instead of having hormonal surges and dips, over the course of a month, its more consistent, says Herrold, who also works as a research scientist at the Edward HinesJrVA Hospital in Illinois.

Provided that the pill continues to be taken after the concussion, that could prevent the sudden fall in progesterone, which would explain the less severe symptoms.

Complicating matters, the surges in oestrogen and progesterone during the luteal phase might also influence dopamine signalling. Dopamine is implicated in many of the brains functions that are influenced by concussion including motivation, mood, memory and concentration making it a good contender for a potential mechanism.

Raghupathis teams recent work on animals suggests that the surge of hormones during the luteal phase could render dopamine receptors slightly more vulnerable to perturbation. So, if a head injury occurs during this time, it seems to throw the dopamine signalling off balance in the long term, with potentially important ramifications for those many different brain functions. Its the disruption of this connectivity between cells [and] between regions that is a potential basis for the behavioural problems, Raghupathi says.

But, as Tracey Covassin emphasises, we still dont know how much truth these hypotheses hold. I wouldnt say any of them are clearly determined at this point.

The different explanations arent mutually exclusive: further research may find that the differences in musculature, blood flow, and the balance of hormones and neurotransmitters all contribute.Future research will also have to investigate other longer-term consequences of concussion. There are concerns, for example, that head impacts can increase the risk of neurodegenerative diseases like Alzheimers. We dont know if women may be at a greater risk here too.

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Although the evidence for these sex differences has grown over the last few years, some experts would prefer to see these results replicated with further, carefully controlled studies, before the message is widely shared.

Without that corroboration, they worry that inadequately supported public claims may inadvertently harm womens recoveries. As Melissa McCradden, a neuroscientist and former competitive athlete, argued in a piece for Scientific American in 2017, a patients own expectations can influence their progress. So if we label women in this way, it can have a direct, negative effect on their recovery from concussion, she wrote.

There is also the fear that this information might put males at greater risk, if they wrongly assume that concussion is only a female problem.

If you focus too much on any kind of perceived or possible male-female divide, it might give this false perception that actually males are more able to withstand concussion [than they really are], says Luke Griggs, the deputy CEO of Headway, a charity that offers support for the survivors of brain injury and their carers across the UK. Boys and men might believe they could return to play too early whereas everyone, he emphasises, should be cautious following a concussion rather than trying to ignore their symptoms.

These are reasonable concerns, but many with concussion have been frustrated by the current lack of awareness about their condition.

Esther told me that some of her doctors were aware of the sex differences. But she would have preferred to know herself, before she ever got concussed. I had no idea, she says. And I think that if youre an athlete, playing any sport, you deserve to know the potential risks. If youre a girl playing sports, you deserve to know that maybe you are more at risk than your male counterparts.

Esther and Jessica emphasise that they wouldnt have let the risks prevent them from playing the sports in the first place this should not be taken as another excuse to limit the potential of girls and women. But they hope that female athletes would benefit from having the knowledge to protect themselves from unnecessary injuries and to ensure that they do not feel pressured to return to play too quickly, for instance.

Better awareness of these sex differences could ultimately lead to better care before and after the event.

One strategy might be to build better headgear for women. Unfortunately, its not quite that simple: concussions can arise from the sudden movement of the head as well as from a direct blow to the skull, which means that headgear wont prevent certain causes of concussion (though it can prevent fractures and other head injuries).

Some researchers are taking another approach: designing special exercises which could strengthen female neck muscles, which could reduce the violent movement of the head following an impact. It could decrease the basic chance for [concussive] brain injuries, says Inga Koerte.

And if further research shows that the sudden drop in progesterone increases the risks, then it might be a reason for female athletes to take oral contraceptives (though the evidence is not yet strong enough to make this recommendation).

For Jessica, these measures will be too late. She now lives and works in the UK, and after three years, many of her symptoms have subsided enough for her to mostly live my life without too much trauma, she says, but she still has a constant lingering headache, and she has to be on constant watch-out for a flare-up which can occur whenever she has over-exerted herself. And small difficulties that she once could have easily managed continue to feel overwhelming.

Indeed, on the day we were due to speak, she had been making some sales forecasts for work. She says it was hardly rocket science, yet she soon felt the fog descending.

I was looking at those numbers, and nothing made sense like I couldnt [even] figure out where to start to have them make sense.

She is still unable to play her beloved roller derby, and even running with its repeated jolting movements reverberating through the body is too much to bear, though she has recently taken up climbing, which doesnt lead to flare-ups. Without any answers from conventional medicine, shes sought help from acupuncture and osteopathy.

More than anything, the experience means that Jessica is constantly conscious of her brains physical presence and its vulnerability. I mean, youre normally not aware of your brain. Its just there its like your feet, its like breathing. But for me, Im always aware of it.

This article was first published by Wellcome on Mosaic and is republished here under a Creative Commons licence. Sign up to the newsletter at https://mosaicscience.com/newsletter

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Male and female brains respond to injury differently, research shows - The Independent

Operating final month, I felt a well-known twinge. Seconds later, a ache ripped by my proper calf and I stumbled to a halt, annoyed.

For many years I might dash 200 metres or run six miles a number of occasions per week with barely an aching muscle to indicate for it. However since turning 40 final June, scarcely a month has handed with out me sustaining an harm.

Ive pulled each calf muscle mass a number of occasions; the Achilles tendon in my heel, which precipitated ache for months; and Ive pulled muscle mass in my higher again whereas doing weights.

Antonia Hoyle is a working mom of two young children and has skilled damaged sleep and again ache amongst different niggles since turning 40

However as Ive learnt, torn muscle mass arent the one unwelcome physiological change after 40. My higher again hurts, my sleep is more and more damaged and hangovers really feel brutal. Im typically exhausted, my toes harm and my temper switches from sunny to murderous in seconds.

After many years of taking my well being as a right, I all of the sudden really feel extra fragile.

Im not alone on this realisation, nevertheless. Analysis final month by vitamin firm Healthspan revealed that at round 40, most of us realise our physique now not capabilities in addition to it used to.

Respondents to its ballot of two,000 adults reported their knees begin to harm after 40, their backs began to go at 44, whereas by their late-40s three-quarters of individuals stated they suffered joint ache each day.

Solely 55 per cent noticed a physician and nor have I, accepting on some stage, maybe, that such modifications are inevitable at 41.

Additionally, as a working mom of two young children, I dont have a lot spare time and dont suppose these well being niggles warrant a go to to the GP.

Specialists arent stunned by this development in well being decline from 40.

From experience, Ive realised that the physique doesnt bounce again as rapidly over 40, says Valentina Roffi, a physiotherapist at Dash Physiotherapy in Kensington, West London.

Niggles set people back and health and fitness levels can decline to get the results we had in our 20s after the age of 40, we need to put in more effort.

So what causes these post-40 well being niggles, and the way greatest can we counter them? I requested the consultants . . .

The issue: I really like working however since turning 40 Ive pulled each calf muscle mass endlessly and my proper Achilles heel, which took three months to fix.

In my experience, as soon as you turn 40 these injuries become more frequent, says Tim Allardyce, a physiotherapist and osteopath at Surrey Physio.

The timing is partly as a result of such accidents are cumulative (after working greater than 700 miles a yr for 25 years, my calves had been maybe destined to protest) and degenerative muscle mass shrink as we age. After 30, except we train, we lose as much as 5 per cent of our muscle per decade, making remaining muscle mass weaker and extra prone to pressure.

Many individuals expertise sore knees by the age of 40, brought on by the carrying down of cartilage

Declining ranges of testosterone which stimulates muscle progress in women and men can exacerbate muscle loss, as can oestrogen depletion in girls. Oestrogen works to strengthen the muscles, which support bones and joints, says Dr Roger Wolman, a marketing consultant in rheumatology and sport & train at Spire Bushey Hospital in Hertfordshire.

Tim Allardyce provides: The nervous system doesnt perform as effectively after 40, with response pace lowering, making us extra susceptible to harm, and our our bodies take longer to heal.

Many individuals expertise sore knees by the age of 40, brought on by the carrying down of cartilage.

The way to repair it: With regards to avoiding accidents, varying workouts [incorporating swimming, cycling and cross-training, for example, into routines] is beneficial to your nervous system because it challenges different muscle groups, as is incorporating balance training with a wobble board or Swiss ball, says Tim.

As I havent been in a position to run for 3 weeks because of my injured calf muscle, Ive been biking on an train bike and lifting weights 3 times per week, which has helped preserve my health and a greater temper. Doing stretches to heat up earlier than a full exercise makes the connective tissue round muscle extra pliable and might cut back harm, provides Tim.

For sore knees, reducing weight can ease pressure on the joints, whereas train will strengthen muscle mass and bones. Keep away from low chairs to minimise knee pressure.

Therapies embody injections of hyaluronic acid into the knee each six months to lubricate it. An alternative choice is platelet-rich plasma remedy, the place your individual blood is re-injected into the knee to stiumulate therapeutic.

The issue: Though a lifelong insomniac, Im sleeping worse than ever. Its typically 2am earlier than I nod off, and I frequently wake, worrying about my ever-expanding to-do record. Natural teas and over-the-counter cures havent helped. Ive been prescribed sleeping drugs earlier than in my 30s however I do know theyre not a long-term resolution.

Sleep professional Dr Neil Stanley says the deep restorative part of our sleep cycle when blood strain drops and blood provide to muscle mass will increase reduces from a number of hours once we are youngsters to as little an hour an evening in our 40s (its unclear why).

This means we can feel exhausted even if were getting the identical quantity of sleep, and were extra simply woken, he provides.

Center-age weight achieve can improve loud night breathing and interrupt sleep, whereas weaker bladders (widespread in over-40s) imply we wake extra to go to the toilet

Within the decade earlier than the menopause (the common age of which is 51), theres a drop within the hormone progesterone which usually will increase the manufacturing of sleep-aiding mind chemical GABA and different hormonal modifications that have an effect on the physiques temperature management. To have a good nights sleep we have to lose one diploma of our physique temperature. If thats elevated (which might occur within the years previous the menopause), youll discover it harder, says Dr Stanley.

Center-age weight achieve can improve loud night breathing and interrupt sleep, whereas weaker bladders (widespread in over-40s) imply we wake extra to go to the toilet.

The way to repair it: If attainable, sleep alone in a cool, quiet room, says Dr Stanley, I have found 36 per cent of sleep disturbance is caused by your partner.

Typically, at 2am, I transfer to our spare room the change of scene and house from my husband who, annoyingly, falls asleep immediately, appears to assist.

Reduce out your afternoon espresso, as our our bodies metabolise caffeine extra slowly with age, and do some train: research present a reasonable cardio exercise might help us sleep higher as a result of it reduces stress, a standard explanation for sleep issues.

Dont use your smartphone within the bed room. It emits blue gentle that suppresses the manufacturing of melatonin, the sleep hormone. Use a separate alarm clock as a substitute.

The issue: Most days, caught at my pc, I really feel an ache in my higher again.

Ache on this space is related to poor posture, muscle fatigue and stress, says Tim Allardyce and its significantly extra widespread for the over-40s.

Theres proof that the ache could also be associated to hormones launched once were confused. For instance, adrenaline causes muscle across the backbone to tense and spasm.

Posture deteriorates with age. This impact is each degenerative and cumulative, says Tim Allardyce.

Ache on this space is related to poor posture, muscle fatigue and stress says Tim Allardyce

Whereas age can put on down the discs in your backbone, which might trigger again ache, sitting hunched over a pc all day causes muscle weak point.

The way to repair it: Tim Allardyces favorite train for higher again ache is the dart.

He says: Lie on your front with your arms by your side. Lift your head, arch your back and lift your arms up behind you. Build up to holding for a minute, once a day. This strengthens muscles along the spine and between the shoulder blades.

Cardiovascular train similar to working or swimming improves circulation, which can assist flush out inflammatory by-products, provides Valentina Roffi: Strength exercises [such as lifting weights] build up the muscles, including those that act as scaffolding to the spine. Stretching exercises will improve the flexibility of the soft tissue surrounding the joints and the skeleton. Massage can also relieve symptoms.

Excessive heels was once a staple a part of my outfits, says Antonia Hoyle

The issue: Excessive heels was once a staple a part of my outfits however now theyre uncomfortable and my toes have developed calluses. If I do courageous heels on an evening out, Ive usually turned into my emergency flat sandals inside an hour.

Podiatrist Matt Fitzpatrick believes adopting a extra lively life-style in our 40s to halt middle-age unfold contributes to growing foot issues. This, mixed with carrying tight sneakers for work all day, and ageing, imply a deterioration of the gentle tissue, bones and joints in our toes, he provides.

Onerous pores and skin within the type of corns and calluses builds as much as shield them. You may as well get bunions.

The way to repair it: Keep away from heels for prolonged intervals of time, advises Matt Fitzpatrick and free flats, similar to ballet pumps: You have to curl your toes to keep them on, which can cause rubbing.

Take tight sneakers off all through the day to alleviate the strain, says George Hill, a podiatrist at Fleet Avenue Clinic in London, who additionally advises choosing trainers with cushioning and shock absorbance.

Ask your pharmacist for a foot cream with urea or lactic acid, which break down arduous pores and skin.

The issue: My moods are more and more erratic. One minute my husband and I are chatting amicably, the following he places the satsumas within the fruit bowl with out taking them out of their internet bag and I snap. Dr Louise Newson, a GP and menopause specialist, says it could possibly be a symptom of hormonal modifications that lead as much as menopause.

As well as a fall in oestrogen levels, progesterone levels fall, which can cause anxiety and a short temper, she says.

My moods are more and more erratic. One minute my husband and I are chatting amicably, the following he places the satsumas within the fruit bowl with out taking them out of their internet bag and I snap, says Antonia Hoyle

The way to repair it: An apparent resolution is hormone substitute remedy (HRT) that incorporates oestrogen and progesterone, although some girls and some consultants have blended emotions about it.

In addition to HRT, different consultants suggest testosterone lotions [levels of this hormone, usually linked with males, can fall in menopause, too] however these usually are not licensed for girls within the UK.

There is good evidence testosterone can be very beneficial for women, says Dr Newson. Theres additionally some proof weight loss plan low in sugar and processed meals might help enhance menopausal signs. Train, too, might help regulate temper.

Definitely, I discover my moods way more steady on days after Ive cycled, and I dont really feel prepared for HRT.

Alcohol is damaged down by enzymes within the physique and absorbed by way of the liver

The issue: A decade in the past Id share a bottle of wine (or two) with mates and really feel wonderful at work the next morning. Now, three glasses give me a crippling hangover.

Dr Mo Shariff, a liver specialist at Spire Bushey Hospital, says: Alcohol is damaged down by enzymes within the physique and absorbed by way of the liver. The extra you drink, the extra enzymes are produced to interrupt down this alcohol.

If youre youthful youre prone to be consuming frequently, so are extra tolerant to alcohol. After 40, alcohol consumption is much less frequent, so there may be much less of the enzyme to interrupt it down. Additionally, as we age and lose mind cells, it takes much less alcohol to saturate the cells and trigger hangover results.

The way to repair it: Select properly. Vodka is least prone to trigger hangovers because it has nearly no congeners substances produced throughout fermentation linked with hangovers (wine and whisky are excessive in congeners).

A latest lab research discovered consuming a mix of 65 per cent pear juice, 25 per cent candy lime and 10 per cent coconut water might cut back hangover results, the journal Present Analysis in Meals Science reported.

The issue: Im smug about my good eyesight however I havent seen an optician for years.

However Dr Susan Blakeney, of the School of Optometrists, says almost everyone wants glasses of their 40s: As we age, the lens inside the eye becomes stiffer, so doesnt focus as simply, and the gap as much as which youll see clearly will get additional away.

Dr Susan Blakeney, of the School of Optometrists, says almost everyone wants glasses of their 40s

Many people dont discover due to using electrical units. On these devices the contrast is good, which makes it easier to read, and you can make the font size bigger, says Dr Blakeney.

The way to repair it: Get your eyes examined a minimum of each two years over the age of 40. Not carrying glasses when wanted can pressure your eyes and result in complications and double imaginative and prescient. Ive added this to my to-do record.

To ease eye pressure, cease gazing your pc each 20 minutes and take a look at one thing 20ft away for 20 seconds. This rule was developed by Jeffrey Anshel, a U.S. optometrist, to encourage folks to blink extra typically (15 occasions a minute in comparison with half that once were gazing screens), so avoiding drained, irritated, dry eyes.

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ANTONIA HOYLE reveals everything DOES go wrong at 40 but heres how you can fight back - Herald Publicist

MedicalResearch.com Interview with:

Dr. Julia Blanter, MD MSIcahn School of Medicine at Mount SinaiFirst author of the study

MedicalResearch.com: What is the background for this study?

Response: The Oncotype DX Breast Cancer Assay was developed to genetically profile patients with early stage, hormone positive breast cancer and predict their 10-year risk of distant recurrence. A high-risk recurrence score is associated with a benefit from adjuvant chemotherapy whereas a low risk recurrence score is associated with little to no benefit.

BRCA mutated tumors have been associated with higher risk recurrence scores as compared to BRCA negative breast cancer patients. However, there have been minimal studies relating discordance to BRCA mutations. Discordance refers to a poorly differentiated or high-grade tumor with a low risk recurrence score. Prior studies demonstrated 7-19% discordance, or difference between recurrence score and tumor grade in breast cancer patients regardless of BRCA mutation status.

It has been concluded that patients who exhibit discordance may benefit from additional therapy in conjunction with endocrine therapy.

MedicalResearch.com: What are the main findings?

Response: We developed a large Oncotype database of 723 patients treated at Mount Sinai Hospital from 2006-2018 to determine if BRCA status is associated with higher rates of discordance when compared to the mutation negative breast cancer population.

We found an association between higher recurrence score and BRCA positivity within our database. We also found that the association between discordance and breast cancer patients was similar between BRCA mutated and non-mutated patients.

MedicalResearch.com: What should readers take away from your report?

Response: Given our findings, we were able to conclude that discordance, tumor grade and tumor size should be considered in treatment plans of breast cancer patients regardless of BRCA mutation status.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Both BRCA mutated and non-mutated patients exhibit some discordance. These patients may benefit from receiving chemotherapy even with a low risk Recurrence Score. Future studies may involve looking at BRCA mutated patients with and without chemotherapy to assess rates of recurrence. Many studies have looked at decreasing risk for BRCA mutated patients with adjuvant chemotherapy following surgical treatment. Therefore, a future research project may involve looking at BRCA mutated patients with bilateral salpingo-oophorectomy and/or bilateral mastectomy and how that affects this risk.

MedicalResearch.com: Is there anything else you would like to add?

Response: We hope to continue using our database to look for further associations that may guide treatment. Within our database, we have look at many different factors some of which include: mutation status, demographics, cholesterol levels, BMI, recurrence rates.

Subjects have given their written informed consent and the study protocol was approved by the institutes committee on human research.

Disclosure Statement

Amy Tiersten, final author of the study has had the following financial relationships in consulting: AstraZeneca, F. Hoffman-La Roche Ltd. Novartis.

Industry-Sponsored Lectures: MSSM faculty occasionally give lectures at events sponsored by industry, but only if the events are free of any marketing purpose.

Amy Tiersten has served on the following Scientific Advisory Boards: Eisai Inc., Immunomedics, Novartis

Citation:

BRCA mutations and association with discordance in a large oncotype database

Julia Blanter, Brittney Zimmerman, Serena Tharakan, Krystal Cascetta, Meng Ru and Amy Tiersten. Icahn School of Medicine at Mount Sinai, New York, NY

https://www.abstractsonline.com/pp8/#!/7946/presentation/959

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Last Modified: Dec 15, 2019 @ 8:08 pm

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

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Oncotype DX Breast Cancer Assay: BRCA Mutations and Association with Discordance in a Large Oncotype Database - MedicalResearch.com

Led by Ros Eeles (Institute of Cancer Research, London, UK) and Michael Sandberg (90 Sloane Street, London, UK), a pioneering study aims to evaluate the practicality and potential benefits of utilizing genetic testing to assess an individuals risk of developing a given disease.

With the current popularity of direct-to-consumer genetic tests, such as 23andMe and AncestryDNA, public interest in genetics is at an all-time high. Such tests are often inaccurate and make unsubstantiated claims, highlighting the importance of integrating a properly controlled and verified genetic test into primary healthcare.

The scheme, known as the 90S study, launched on December 6th, 2019, and aims to assess the suitability of whole-genome sequencing in healthy patients, with the hope of aiding the early diagnosis of ailments such as cancer and heart disease. The study aims to sequence the genomes of approximately 1000 GP patients, who will be recruited from the private general practitioner (GP) surgery, 90 Sloane Street.

Our new initiative takes cutting-edge science on the genetics of disease into a primary care setting, by sequencing patients entire genomes from samples taken at a GP surgery and testing for the presence of 600 key genetic alterations. What we hope is that genetic screening is practical as a way of picking up genes associated with cancer and heart disease, is psychologically acceptable to patients, and can alter the way they are managed by their GP, explained Eeles.

The project will give us crucial information about whether genetic screening in primary care could be feasible, and how we should go about seeking to implement it within the NHS, Eeles added.

The first 20 patients to join the study will receive a psychological evaluation, to assess the impact of genetic screening and its acceptability to patients. All participants will receive echocardiograms to ensure a full understanding of the patients health, but also to put those who have demonstrated genetic risk of heart disease at ease that their current health is good.

The study will be comprised of two groups, half of which will have a family history of cancer or heart disease and half will not. It is hoped that other GP practices will be incorporated into the study, widening the pool of study participants.

The primary aim of the study is to identify potential methods for the simplification and improvement of existing processes in order to incorporate large-scale genetic screening into the NHS.

Working in partnership with experts at The Institute of Cancer Research and The Royal Marsden (London, UK) means we can integrate whole-genome sequencing into screening in primary care with the genetic support that is essential, commented Sandberg.

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Assessing the Future of Genetic Testing in Checkups - BioTechniques.com

1 in 6 people in the U.S. have a medically actionable disorder and may not know it

by: Anna McAllister

WEST MONROE, La. (12/16/19) Jenna Finley is a board-certified genetic counselor at Invitae, a leading medical genetics company. After counseling patients for years, Jenna knew the power with genetic information, but with no strong family history of disease she wasnt concerned about her risk. She mostly wanted to better understand the experience of her patients.

When she received her results, she was shocked.Her results revealed a genetic change in a gene associated with an increased risk of breast cancer. She went to see her doctor, who referred her to a high-risk breast cancer clinic, where she worked with a team to establish a plan to carefully monitor her health.

Now any signs of breast cancer that develop will be caught early.As a genetic counselor, Jenna knew that the other members of her family should be tested in case they, too, faced an increased health risks based on their shared genes. In fact, her mothers test came back positive for the same cancer-causing genetic change Jenna has.

More surprisingly, her father learned that he has a disorder that causes excess iron in the bodys organs, which can be fatal. Jennas father quickly went to his doctor who found his iron levels were so high that he had to begin treatment immediately to avoid potentially irreversible damage.Had Jenna and her parents not gone through the process of genetic testing, they might have ever known about these health conditions.

What Your Genes Can Tell You About Your Health:Your genes reveal more than just where your ancestors were from. Tiny changes in your genes can put you at increased risk of a wide variety of diseases, including cancer and heart disease.

Why Medical Genetic Testing is So Important:Not all genetic tests are created equal. The tests that are popular gifts at the holidays that tell you about your ancestry do not give you the health information you can use to make health decisions like Jennas family did. Jenna can tell you what to look for and how to choose a medical genetic test.

Her Personal Story:Jenna had no reason to believe anything would be amiss, and her entire career was based on understanding how your genes affect your health. She was a proponent of genetic testing before she did it herself, but now is a huge advocate of testing for families, knowing shes helped multiple family members live longer and healthier lives.

Family Health History: It is important to understand your familys health history and to think about how genetic testing can complement what you know.Jenna will also touch on how to broach the topic of health history when youre going home for the holidays and how to handle the sometimes-difficult conversations that happen when your health impacts others in your family.

Increased Genetic Risks are Common: 1 in 6 consumers in the U.S. have a medically actionable disorder and may not know it.

How Genetic Testing Can Help:Genetic testing help with a wide range of health questions, whether youre current facing a health issue, planning for a family, currently expecting or interested in preventing disease.

For more information on genetic testing, you can visit http://www.invitae.com.

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The gift of genetic testing - KTVE - myarklamiss.com

Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the instruction book containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.

The genetic coding system works amazingly well, but like all systems, occasionally things dont go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code develops an error causing you to have a devastating disease.

If genetic testing is so powerful in analysing and understanding your health, why cant you just as easily have this same genetic information inform your care at the doctors office? To answer this question, lets first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).

Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.

Precision medicine is a growth area

With all this money and effort being expended, why isnt the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forums Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.

Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.

These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctors office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:

1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply dont have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white

2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.

3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).

4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply wont order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.

Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.

We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.

License and Republishing

World Economic Forum articles may be republished in accordance with our Terms of Use.

Written by

Arthur Hermann, Fellow, Precision Medicine, World Economic Forum

The views expressed in this article are those of the author alone and not the World Economic Forum.

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How to bring precision medicine into the doctor's office - World Economic Forum

Youve likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.

Even if you dont find a DNA testing kit under your own Christmas tree, theres a good chance someone you know will.

Whether youre motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work before you spit in the tube.

While exciting, there are things that these genetic testing kits cannot tell users and important personal implications that consumers should consider.

Health, traits and ancestry kits

My main area of research is around clinical genome sequencing, where we look through all of a persons DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits.

The most popular ancestry kit is from AncestryDNA. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is Living DNA, which has a smaller dataset but provides more precise information on the U.K. and Ireland.

The most popular health kit is from 23andMe. Depending on the users preference, results include information on predispositions for diseases such as diabetes and Alzheimers, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that dont provide health information. The kit offered by the newer MyHeritage DNA also provides a combined ancestry and health option.

There are other kits out there claiming to evaluate everything from athletic potential to relationship compatibility. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.

How these tests work

For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis.

During this analysis, these popular tests do not look at the entire genome. Instead, they employ single nucleotide polymorphism (SNP) genotyping. As humans we all share 99.9 per cent of our DNA. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to survey the users genome.

These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, its because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled Southeast Asian. The same goes for traits and health conditions.

How they differ from clinical tests

Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases.

In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes genetic counselling that is often key to understanding results.

In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs.

Users may interpret a result as positive, when the risk increase is only minimal, or entirely false. These tests can also give false reassurance because they do not sequence genes in their entirety and can miss potentially harmful variants.

Before you spit in a tube, stop and think

These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. Theyre also helping to build vast genetic databases from which medical research will be conducted.

But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: identical twins can receive different results. Furthermore, a lack of diversity in the reference data has caused particular concern regarding accuracy of results for ethnic minorities.

There are also concerns about the way these tests emphasize racial categories that science considers to be social constructs and biologically meaningless.

A recent paper in the British Medical Journal suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information they would rather not know.

Users should also consider issues around security and privacy. It is important to read the fine print of the service youre using, and determine whether youre comfortable sharing personal information, now and in the future.

In Canada, policies around genetics have not always kept up with the science. At present, direct-to-consumer genetic testing is unregulated. And, although Canadians have legislative protections against genetic discrimination, those laws are being challenged in the courts, and could change.

Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family.

Bottom line: Its all for fun

Some users may feel they learn more about themselves. For others, results may bring people closer together not a bad outcome for the holiday season.

At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way.

If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional.

Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie University

This article is republished from The Conversation under a Creative Commons license.

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DNA tests make fun holiday gifts, but beware of the hype - Salon

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Genetics just got personal. So boasted the website of 23andMe in 2008, just after launching its DNA testing service.

As we entered this decade, a small cohort of companies 23andMe, its Silicon Valley neighbor Navigenics, and Icelandic competitor deCODE Genetics were selling a future of personalized medicine: Patients would hold the keys to longer and healthier lives by understanding the risks written into their DNA and working with their doctors to reduce them.

We all carry this information, and if we bring it together and democratize it, we could really change health care, 23andMe cofounder Anne Wojcicki told Time magazine when it dubbed the companys DNA test 2008s invention of the year, beating out Elon Musks Tesla Roadster.

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

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Its become like Facebook for genes, driven by the same fundamental human desire to connect. And, as with Mark Zuckerbergs social media behemoth, this is the decade we reckoned with what it really means to hand over some of our most personal data in the process.

A 23andMe saliva collection kit for DNA testing.

It all panned out differently from the way I imagined in 2009, when I paid $985 to deCODE and $399 to 23andMe to put my DNA into the service of science journalism. (I spared my then-employer, New Scientist magazine, the $2,500 charge for the boutique service offered by Navigenics.)

I was intrigued by the potential of DNA testing for personalized medicine, but from the beginning, I was also concerned about privacy. I imagined a future in which people could steal our medical secrets by testing the DNA we leave lying around on discarded tissues and coffee cups. In 2009, a colleague and I showed that all it took to hack my genome in this way was a credit card, a private email account, a mailing address, and DNA testing companies willing to do business without asking questions.

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Much of the rest of what I wrote about DNA testing back then reflected pushback from leading geneticists who argued that the companies visions of personalized medicine werent ready for primetime.

As I explored the reports offered by 23andMe and deCODE, I couldnt help but agree especially when deCODE wrongly concluded that I carry two copies of a variant of a gene that would give me a 40% lifetime chance of developing Alzheimers. (Luckily, it wasnt cause for panic. Id pored over my DNA in enough detail by then to know that I carry only one copy, giving me a still-elevated but much less scary lifetime risk of about 13%.)

Despite such glitches, it still seemed that medicine was where the payoffs of mainstream genetic testing were going to be. As costs to sequence the entire genome plummeted, I expected gene-testing firms to switch from using gene chips that scan hundreds of thousands of genetic markers to new sequencing technology that would allow them to record all 3 billion letters of our DNA.

So in 2012, eager to provide our readers with a preview of what was to come, New Scientist paid $999 for me to have my exome sequenced in a pilot project offered by 23andMe. This is the 1.5% of the genome that is read to make proteins and is where the variants that affect our health are most likely to lurk.

Experts at the Medical College of Wisconsin in Milwaukee analyzed my exome. While they werent at that point able to tell me much of medical significance that I didnt already know, the article I wrote from the experience in 2013 predicted a future in which doctors would routinely scour their patients genomes for potential health problems and prescribe drugs that have been specifically designed to correct the biochemical pathways concerned.

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Im glad I included an important caveat: This may take several decades.

By then, the revolution promised by 23andMe and its competitors was faltering. Navigenics and deCODE had both been acquired by bigger companies and stopped selling DNA tests directly to the public.

23andMe, backed by the deep pockets of Google and other Silicon Valley investors, had enough cash to continue. But it fell foul of the FDA, which had decided that the company was selling medical devices that needed official approval to be put on the market. In a 2013 warning letter, the FDA said that 23andMe had failed to provide adequate evidence that its tests produced accurate results. By the end of 2013, 23andMe had stopped offering assessments of health risks to new customers.

Since then, the company has slowly clawed its way back into the business of health. In 2015, it was given FDA approval to tell customers whether they were carriers for a number of inherited diseases; in 2017, it started providing new customers with assessments of health risks once more.

I recently updated my 23andMe account, getting tested on the latest version of its chip. My results included reports on my genetic risk of experiencing 13 medical conditions. Back in 2013, there were more than 100 such reports, plus assessments of my likely responses to a couple dozen drugs.

In the lab, discovery has continued at a pace, but relatively few findings have found their way into the clinic.

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If youve recently been pregnant, you were probably offered blood tests to tell whether your fetus had a serious genetic abnormality. And if youve been diagnosed with cancer, a biopsy may have been sequenced to look for mutations that make some drugs a good bet and other ones a bust. Neither would have been common a decade ago.

But the wider health care revolution envisaged by Wojcicki remains far off.

A few weeks ago, I saw my doctor to discuss my moderately high blood cholesterol and had a conversation that Id once predicted would be common by now. I had signed up for a project called MyGeneRank, which took my 23andMe data and calculated my genetic risk of experiencing coronary artery disease based on 57 genetic markers, identified in a 2015 study involving more than 180,000 people.

My genetic risk turns out to be fairly low. After I pulled out my phone and showed my doctor the app detailing my results, we decided to hold off on taking a statin for now, while I make an effort to improve my diet and exercise more. But it was clear from her reaction that patients dont usually show up wanting to talk about their DNA.

We have all these naysayers and an immense body of research that is not being used to help patients, said Eric Topol, director of the Scripps Research Translational Institute in La Jolla, California, which runs the MyGeneRank project.

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Joseph James DeAngelo, the suspected "Golden State Killer," appears in court for his arraignment in Sacramento, April 27, 2018.

23andMes collision with the FDA wound up being a turning point in ways I didnt anticipate at the time. From the start, the company included an assessment of customers ancestries as part of the package. But after the FDA cracked down, it pivoted to make ancestry and finding genetic relatives its main focus. Offering the test at just $99, 23andMe went on a marketing blitz to expand its customer base competing with a new rival.

Ancestry.com launched its genome-scanning service in May 2012 and has since gone head-to-head with 23andMe through dueling TV ads and Black Friday discount deals.

DNA tests became an affordable stocking filler, as millions of customers were sold a journey of self-discovery and human connection. We were introduced to new genetic relatives. And we were told that the results might make us want to trade in our lederhosen for a kilt or connect us to distant African ancestors.

Today, Ancestrys database contains some 15 million DNA profiles; 23andMes more than 10 million. Family Tree DNA and MyHeritage, the two other main players, have about 3.5 million DNA profiles between them. And for the most dedicated family history enthusiasts, there is GEDmatch, where customers can upload DNA profiles from any of the main testing companies and look for potential relatives. It contains about 1.2 million DNA profiles.

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So far, so much fun. But DNA testing can reveal uncomfortable truths, too. Families have been torn apart by the discovery that the man they call Dad is not the biological father of his children. Home DNA tests can also be used to show that a relative is a rapist or a killer.

That possibility burst into the public consciousness in April 2018, with the arrest of Joseph James DeAngelo, alleged to be the Golden State Killer responsible for at least 13 killings and more than 50 rapes in the 1970s and 1980s. DeAngelo was finally tracked down after DNA left at the scene of a 1980 double murder was matched to people in GEDmatch who were the killer's third or fourth cousins. Through months of painstaking work, investigators working with the genealogist Barbara Rae-Venter built family trees that converged on DeAngelo.

Genealogists had long realized that databases like GEDmatch could be used in this way, but had been wary of working with law enforcement fearing that DNA test customers would object to the idea of cops searching their DNA profiles and rummaging around in their family trees.

But the Golden State Killers crimes were so heinous that the anticipated backlash initially failed to materialize. Indeed, a May 2018 survey of more than 1,500 US adults found that 80% backed police using public genealogy databases to solve violent crimes.

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I was very surprised with the Golden State Killer case how positive the reaction was across the board, CeCe Moore, a genealogist known for her appearances on TV, told BuzzFeed News a couple of months after DeAngelos arrest.

The new science of forensic genetic genealogy quickly became a burgeoning business, as a company in Virginia called Parabon NanoLabs, which already had access to more than 100 crime scene samples through its efforts to produce facial reconstructions from DNA, teamed up with Moore to work cold cases through genealogy.

Before long, Parabon and Moore were identifying suspected killers and rapists at the rate of about one a week. Intrigued, my editor and I decided to see how easy it would be to identify 10 BuzzFeed employees from their DNA profiles, mimicking Parabons methods. In the end, I found four through matches to their relatives DNA profiles and another two thanks to their distinctive ancestry. It was clear that genetic genealogy was already a powerful investigative tool and would only get more so as DNA databases continued to grow.

A backlash did come, however, after two developments revealed by BuzzFeed News in 2019. In January, Family Tree DNA disclosed that it had allowed the FBI to search its database for partial matches to crime-scene samples since the previous fall without telling its customers. I feel they have violated my trust, Leah Larkin, a genetic genealogist based in Livermore, California, told BuzzFeed News at the time.

Then, in May, BuzzFeed News reported that police in Centerville, Utah, had convinced Curtis Rogers, a retired Florida businessperson who cofounded GEDmatch, to breach the sites own terms and conditions, which were supposed to restrict law enforcement use to investigations of homicides or sexual assaults. That allowed Parabon to use matches in the database to identify the perpetrator of a violent assault.

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Larkin and other genealogists condemned the move, calling it the start of a slippery slope that would see the method being used to investigate more trivial crimes.

As barbs flew between genealogists working with law enforcement and those who advocate for genetic privacy, GEDmatch responded with new terms of service that extended the definition of violent crime, but also required users to explicitly opt in for their DNA profiles to be included in law enforcement searches.

Overnight, GEDmatch became useless for criminal investigations. Since then, the number of users opting in for matching to crime-scene samples has slowly increased, and now stands at more than 200,000. But progress in cracking criminal cases has remained slow.

Now that cops have seen the power of forensic genetic genealogy, however, they dont want to let it go. In November, the New York Times revealed that a detective in Florida had obtained a warrant to search the entirety of GEDmatch, regardless of opt-ins. It seems only a matter of time before someone tries to serve a warrant to search the huge databases of 23andMe or Ancestry, which dont give cops access sparking legal battles that could go all the way to the Supreme Court.

Genetic privacy, barely mentioned as millions of us signed up to connect with family across the world and dig into our ancestral roots, is suddenly front and center.

This week, Rogers and the other cofounder of GEDmatch, John Olson, removed themselves from the heat when they sold GEDmatch to Verogen, a company in San Diego that makes equipment to sequence crime-scene DNA. Verogen CEO Brett Williams told BuzzFeed News that he sees a business opportunity in charging police for access to the database but promised to respect users privacy. Were not going to force people to opt in, he said.

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But it isnt just whether cops can run searches against your DNA. 23andMe may not share your information with law enforcement, but customers are asked when they signed up whether if they are OK with their de-identified DNA being used for genetic research.

It might not be obvious when you fill in the consent form, but this lies at the heart of 23andMes business model. The reason the company pushed so hard to expand its database of DNA profiles is to use this data in research to develop new drugs, either by itself or by striking deals with pharmaceutical companies.

Ancestry has also asked its users to consent to participate in research, teaming up with partners that have included Calico, a Google spinoff researching ways to extend human lifespan.

You might be comfortable with all of this. You might not. You should definitely think about it because when the information is your own DNA, there really is no such thing as de-identified data.

That DNA profile is inextricably tied to your identity. It might be stripped of your name and decoupled from the credit card you used to pay for the test. But as 23andMe warns in its privacy policy: In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests.

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And because you share a large part of your genome with close relatives, when you put your DNA profile into a companys database, you arent only making a decision for yourself: Their privacy is on the line, too.

Whether its due to concerns about privacy, a saturated market, or just that the novelty has worn off, sales of DNA ancestry tests are slowing. Ancestry has responded by offering a new product focused on health risks. Unlike 23andMe, it requires that tests are ordered through PWNHealth, a national network of doctors and genetic counselors.

Will this be the development that takes us back to the future I once imagined? Maybe so, but if the roller coaster of the past decade has taught me anything, its to be wary about making any predictions about our genetic future.

Peter Aldhous is a Science Reporter for BuzzFeed News and is based in San Francisco.

Contact Peter Aldhous at peter.aldhous@buzzfeed.com.

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10 Years Ago, DNA Tests Were The Future Of Medicine. Now Theyre A Social Network And A Data Privacy Mess. - BuzzFeed News

This week, GEDmatch, a genetic genealogy company that gained notoriety for giving law enforcement access to its customers DNA data, quietly informed its users it is now operated by Verogen, Inc., a company expressly formed two years ago to market next-generation [DNA] sequencing technology to crime labs.

What this means for GEDmatchs 1.3 million users and for the 60% of white Americans who share DNA with those users remains to be seen.

GEDmatch allows users to upload an electronic file containing their raw genotyped DNA data so that they can compare it to other users data to find biological family relationships. It estimates how close or distant those relationships may be (e.g., a direct connection, like a parent, or a distant connection, like a third cousin), and it enables users to determine where, along each chromosome, their DNA may be similar to another user. It also predicts characteristics like ethnicity.

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An estimated 30 million people have used genetic genealogy databases like GEDmatch to identify biological relatives and build a family tree, and law enforcement officers have been capitalizing on all that freely available data in criminal investigations. Estimates are that genetic genealogy sites were used in around 200 cases just last year. For many of those cases, officers never sought a warrant or any legal process at all.

Earlier this year, after public outcry, GEDmatch changed its previous position allowing for warrantless law enforcement searches, opted out all its users from those searches, and required all users to expressly opt in if they wanted to allow access to their genetic data. Only a small percentage did. But opting out has not prevented law enforcement from accessing consumers genetic data, as long as they can get a warrant, which one Orlando, Florida officer did last summer.

Law enforcement has argued that people using genetic genealogy services have no expectation of privacy in their genetic data because users have willingly shared their data with the genetics company and with other users and have consented to a companys terms of service. But the Supreme Court rejected a similar argument in Carpenter v. United States.

In Carpenter, the Court ruled that even though our cell phone location data is shared with or stored by a phone company, we still have a reasonable expectation of privacy in it because of all the sensitive and private information it can reveal about our lives. Similarly, genetic data can reveal a whole host of extremely private and sensitive information about people, from their likelihood to inherit specific diseases to where their ancestors are from to whether they have a sister or brother they never knew about. Researchers have even theorized at one time or another that DNA may predict race, intelligence, criminality, sexual orientation, and political ideology. Even if later disproved, officials may rely on outdated research like this to make judgements about and discriminate against people. Because genetic data is so sensitive, we have an expectation of privacy in it, even if other people can access it.

However, whether individual users of genetic genealogy databases have consented to law enforcement searches is somewhat beside the point. In all cases that we know of so far, law enforcement isnt looking for the person who uploaded their DNA to a consumer site, they are looking for that persons distant relatives people who never could have consented to this kind of use of their genetic data because they dont have any control over the DNA they happen to share with the sites users.

That means these searches are nothing more than fishing expeditions through millions of innocent peoples DNA. They are not targeted at finding specific users or based on individualized suspicion a fact the police admit because they dont know who their suspect is. They are supported only by the hope that a crime scene sample might somehow be genetically linked to DNA submitted to a genetic genealogy database by a distant relative, which might give officers a lead in a case. Theres a real question whether a warrant that allows this kind of search could ever meet the particularity requirements of the Fourth Amendment.

These are also dragnet searches, conducted under general warrants, and no different from officers searching every house in a town with a population of 1.3 million on the off chance that one of those houses could contain evidence useful to finding the perpetrator of a crime. With or without a warrant, the Fourth Amendment prohibits searches like this in the physical world, and it should prohibit genetic dragnets like this one as well.

We need to think long and hard as a society about whether law enforcement should be allowed to access genetic genealogy databases at all even with a warrant. These searches impact millions of Americans. Although GEDmatch likely only encompasses about 0.5% of the U.S. adult population, research shows 60% of white Americans can already be identified from its 1.3 million users. This same research shows that once GEDmatchs users encompass just 2% of the U.S. population, 90% of white Americans will be identifiable.

Although many authorities once argued these kinds of searches would only be used as a way to solve cold cases involving the most terrible and serious crimes, that is changing; this year, police used genetic genealogy to implicate a teenager for a sexual assault. Next year it could be used to identify political or environmental protestors. Unlike established criminal DNA databases like the FBIs CODIS database, there are currently few rules governing how and when genetic genealogy searching may be used.

We should worry about these searches for another reason: they can implicate people for crimes they didnt commit. Although police used genetic searching to finally identify the man they believe is the Golden State Killer, an earlier search in the same case identified a different person. In 2015, a similar search in a different case led police to suspect an innocent man. Even without genetic genealogy searches, DNA matches may lead officers to suspect and jail the wrong person, as happened in a California case in 2012. That can happen because we shed DNA constantly and because our DNA may be transferred from one location to another, possibly ending up at the scene of a crime, even if we were never there.

All of this is made even more concerning by the recent acquisition of GEDmatch by a company whose main purpose is to help the police solve crimes. The ability to research family history and disease risk shouldnt carry the threat that our data will be accessible to police or others and used in ways we never could have foreseen. Genetic genealogy searches by law enforcement invade our privacy in unique ways they allow law enforcement to access information about us that we may not even know ourselves, that we have no ability to hide, and that could reveal more about us in the future than scientists know now. These searches should never be allowed even with a warrant.

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Genetic Testing Company Acquired by Company With Ties to FBI and Law Enforcement - Truthout

A genetic variant found in about 3% of people of African ancestry is a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers at Penn Medicine. The researchers also found that this type of heart failure is underdiagnosed. According to their study, 44% of TTR V122Ivariant carriers older than age 50 had heart failure, but only 11% of these individuals had been diagnosed with hATTR-CM. The average time to diagnosis was three years, indicating both high rates of underdiagnoses and prolonged time to appropriate diagnosis

This study suggests that workup for amyloid cardiomyopathy and genetic testing of TTR should be considered, when appropriate, to identify patients at risk for the disease and intervene before they develop more severe symptoms or heart failure, said the studys lead author Scott Damrauer, M.D., an assistant professor of Surgery at Penn Medicine and a vascular surgeon at the Corporal Michael J. Crescenz VA Medical Center. (Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania and the University of Pennsylvania Health System.)

In this study, researchers from Penn Medicine and the Icahn School of Medicine at Mount Sinai used a genome-first approach, performing DNA sequencing of 9,694 individuals of African and Latino ancestry enrolled in either the Penn Medicine BioBank (PMBB) or the Icahn School of Medicine at Mount Sinai BioMe biobank (BioMe). Researchers identified TTR V122I carriers and then examined longitudinal electronic health record-linked genetic data to determine which of the carriers had evidence of heart failure.

The findings, which were published today in JAMA, are particularly important given the US Food and Drug Administrations (FDA) approval of the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to tafamidiss approval, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.

Our findings suggest that hATTR-CM is a more common cause of heart failure than its perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure, said the studys corresponding author Daniel J. Rader, M.D., chair of the Department of Genetics at Penn Medicine. With the recent advances in treatment, its critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.

hATTR-CM, also known as cardiac amyloidosis, typically manifests in older patients and is caused by the buildup of abnormal deposits of a specific transthyretin protein known as amyloid in the walls of the heart. The heart walls become stiff, resulting in the inability of the left ventricle to properly relax and adequately pump blood out of the heart. However, this type of heart failurewhich presents similar to hypertensive heart disease is common, and the diagnosis of hATTR-CM is often not considered.

Tafamidis meglumine is a non-NSAID benzoxazole derivative that binds to TTR with high affinity and selectivity. TTR acts by transporting the retinol-binding protein-vitamin A complex. It is also a minor transporter of thyroxine in blood. Its tetrameric structure can become amyloidogenic by undergoing rate-limiting dissociation and monomer misfolding.

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Penn Team Finds Genetic Variant Largely Found in Patients of African Descent that Increases Heart Failure Risk - Clinical OMICs News

Starting Jan. 1, 2020, Illinois residents genetic testing results will be protected. Bertino-Tarrant (D-Shorewood) championed House Bill 2189, which prohibits companies that provide direct-to-consumer commercial genetic testing such as ancestry.com and 23andMe, from sharing any test results with health or life insurance companies without the consumers consent.

In the last couple of years, genetic testing has will remain private as they make informed decisions to manage their health care.

The number of people who have had their DNA analyzed with direct-to-consumer genetic genealogy tests more than doubled during 2017 and exceeded 12 million in 2018. Last year, an estimated 1 in 25 American adults now have access to personal genetic data.

We have the responsibility to ensure personal data is used ethically, Bertino-Tarrant said. As technology evolves it is imperative that laws advance with the needs of the people of our state.

Representative Natalie Manley (D-Joliet) was the lead sponsor in the House.

House Bill 2189 passed the Senate and House with bipartisan support. The measure was signed into law in July.

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Consumers protected across Will County - The Times Weekly

Archaeologists made an "extremely rare" find in China when they found a human skeleton with an uncommon form of dwarfism, according to a recent news report.

The skeleton was originally recovered from a burial site near the Yellow River in east-central China, along with other remains of people who had lived between 3300 and 2900 B.C., Forbes reported. All the skeletons were found with their hands placed on top of their bodies, except for one, whose hands were tucked behind its back. The bones of this skeleton appeared short and weak compared to the other skeletal remains; on closer inspection, the archaeologists diagnosed the young adult with skeletal dysplasia, also known as dwarfism.

A wide range of conditions fall under the umbrella term "skeletal dysplasia," but in general, these conditions tend to disrupt bone development, causing individuals to grow to shorter-than-average stature, the authors noted in a report published Dec. 13 in the International Journal of Paleopathology. Skeletal dysplasia is fairly rare in modern humans, occurring in about 3.22 out of every 10,000 births, but the condition crops up even less often in the archaeological record to date, fewer than 40 cases have been discovered. Of these, most cases represent a relatively common form of dwarfism called achondroplasia, which causes the limbs to grow disproportionately shorter than the head and trunk.

Related: Photos: A 400-Year-Old War Grave Revealed

But archaeologists at the burial site soon realized that they had stumbled upon an even rarer find. While the limbs of the skeleton appeared short, the bones of the head and trunk also seemed small. Judging by the skeleton's teeth, the team determined that the remains belonged to a young adult, but the skeleton's full-grown limb bones remained unfused. The authors diagnosed the Neolithic skeleton with a condition known as "proportionate dwarfism," rarely seen in either archaeological or living human populations.

The team theorized that the skeleton's short stature stemmed from "pediatric onset hypopituitarism and hypothyroidism," meaning that the individual likely developed either an underactive thyroid gland or pituitary gland early in life. Both glands direct the function of hormones throughout the body, and without their guidance, body tissues and organs may fail to grow as they should. The condition can stunt bone growth, cognitive development and heart and lung function; the individual uncovered in China likely required "support from other community members" to survive, the authors noted.

Unlike achondroplasia, which typically arises from a genetic mutation, thyroid and pituitary dysfunction is thought to be linked to a lack of essential nutrients, such as iodine. Rates of hypothyroidism remain higher in China than in the U.S., partly due to the fact that many Chinese people still consume iodine-deficient diets, according to Forbes.

Related: Photos: Looking for Extinct Humans in Ancient Cave Mud

Although the short-statured skeleton was buried differently than the ones nearby in the tomb, the archaeologists aren't sure if or how the individual may have been treated in life. Confucian texts from the 4th century B.C. suggest that people with physical differences would not have been ostracized in Neolithic China. ("If virtue is pre-eminent, the body will be forgotten," the philosopher Zhuangzi once wrote.) But this sentiment clashes with historical accounts from the 2nd century B.C., which imply that those with dwarfism "were seen as outsiders," the authors noted.

"I think it is important for us to recognize that disability and difference can be found in the past, but these did not necessarily have negative connotations socially or culturally," co-author Sin Halcrow, an archaeologist at the University of Otago, told Forbes. "The ancient historical texts show that they may, in fact, have been revered in some situations."

Originally published on Live Science.

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5,000-Year-Old Human Found with 'Extremely Rare' Form of Dwarfism - Livescience.com

ESPCs derived from pig provide important implications for developmental biology, organ transplantation, regenerative medicine, disease modeling, and screening for drugs.

FREMONT, CA: Stem cell therapy, usually applied to humans, is now extended to animals too. It is a regenerative treatment applied to cats, dogs, pigs, and other animals. It includes removing cells from bone marrow, blood or fat, umbilical cords, and the cell can grow into any kind of cell and can repair damaged tissues. The regenerative therapy has been successful in animals. It can be used mainly for the treatment of spinal cord and bone injuries along with the problems with tendons, ligaments, and joints. One of the breakthroughs is the embryonic stem cell lines obtained from the pig.

Scientists have derived Expanded Potential Stem Cells (EPSCs) from pig embryos for the first time. They offer the groundbreaking potential to study embryonic development and produce translational research in genomics and regenerative medicine. Embryonic stem cells (ESC) are derived from the inner cells of early embryos called blastocysts. They are pluripotent cells as they can develop into various cell types of the body in the culture dish. The newly derived porcine EPSCs isolated from pig embryos are the first well-characterized cell lines worldwide. Their pluripotent ability provides important implications for developmental biology, organ transplantation, regenerative medicine, disease modeling, and screening for drugs.

The stem cells can renew themselves, showing that they can be kept in culture indefinitely while showing the typical morphology and gene expression patterns of embryonic stem cells. Because somatic cells have a limited lifespan, they cannot be used for such applications, and therefore the new stem cells are better suited for the lengthy selection process. These porcine stem cell lines can easily be edited with new genome editing techniques like CRISPR/Cas, and are currently the simplest, most versatile and precise method of genetic manipulation.

The EPSCs have a greater capacity to develop into numerous cell types of the organism as well as into extraembryonic tissue, the trophoblasts, rending them very unique and, thus, their name. This capacity is valuable for the future promising organoid technology where organ-like small cell aggregations are grown in 3D aggregates and used for research into early embryo development, various disease models, and testing of new drugs in Petri dishes. Also, they offer a unique possibility to investigate functions or diseases of the placenta in vitro.

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How Will Animals Get Benefitted by Stem Cell Therapy? - Medical Tech Outlook

VALLEY COTTAGE, N.Y. Stem cells are undifferentiated biological cells, and having remarkable potential to divide into any kind of other cells. When a stem cell divides, each new cell will be a new stem cell or it will be like another cell which is having specific function such as a muscle cell, a red blood cell, brain cell and some other cells.

There are two types of stem cells

Stem cells harvested from umbilical cord blood just after birth. And this cells can be stored in specific conditions. Stem cells also can be harvest from bone marrow, adipose tissue.

Embryonic cells can differentiate into ectoderm, endoderm and mesoderm in developing stage. Stem cells used in the therapies and surgeries for regeneration of organisms or cells, tissues.

Stem cells are used for the treatment of Gastro intestine diseases, Metabolic diseases, Immune system diseases, Central Nervous System diseases, Cardiovascular diseases, Wounds and injuries, Eye diseases, Musculoskeletal disorders.

Download the sample copy of Report with table of contents and Figures @: https://www.futuremarketinsights.com/reports/sample/rep-gb-1087

Harvesting of Adult cell is somewhat difficult compare to embryonic cells. Because Adult cells available in the own body and it is somewhat difficult to harvest.

Stem Cell TherapiesMarket: Drivers and Restraints

Technology advancements in healthcare now curing life threatening diseases and giving promising results. Stem Cell Therapies having so many advantages like regenerating the other cells and body organisms. This is the main driver for this market. These therapies are useful in many life threatening treatments. Increasing the prevalence rate of diseases are driven the Stem Cell Therapies market, it is also driven by increasing technology advancements in healthcare. Technological advancements in healthcare now saving the population from life threatening complications.

Increasing funding from government, private organizations and increasing the Companies focus onStem cell therapiesare also driven this market

However, Collecting the Embryonic Stem cells are easy but Collecting Adult Stem cell or Somatic Stem cells are difficult and also we have to take more precautions for storing the collected stem cells.

Preview Analysis of Stem Cell Therapies Market: Global Industry Analysis and Opportunity Assessment 2015 2025: https://www.futuremarketinsights.com/reports/stem-cell-therapies-market

Stem Cell TherapiesMarket: Segmentation

Stem Cell Therapies are segmented into following types

Based on treatment:

Based on application:

Based on End User:

Stem Cell TherapiesMarket: Overview

With rapid technological advantage in healthcare and its promising results, the use of Stem Cell Therapies will increase and the market is expected to have a double digit growth in the forecast period (2015-2025).

Stem Cell TherapiesMarket: Region- wise Outlook

Depending on geographic regions, the global Stem Cell Therapies market is segmented into seven key regions: North America, South America, Eastern Europe, Western Europe, Asia Pacific excluding Japan, Japan and Middle East & Africa.

The use of Stem Cell Therapies is high in North America because it is highly developed region, having good technological advancements in healthcare setup and people are having good awareness about health care. In Asia pacific region china and India also having rapid growth in health care set up. Europe also having good growth in this market.

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Stem Cell TherapiesMarket: Key Players

Some of the key players in this market are

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Stem Cell Therapies Market research Likely to Emerge over a Period of 2015-2025 - PharmiWeb.com

By Aprille HansonAssociate Editor

Aprille Hanson

Deacon Butch King and his wife Debbie (left) stand with their daughter Paula Draeger (center) in front of the Seed of Hope garden at UAMS Winthrop P. Rockefeller Cancer Institute in Little Rock Dec. 4. Last month, King was able to place a seed of hope token into the garden, signifying he is cancer-free, thanks to a stem cell donation from his daughter.

Aprille Hanson

Deacon Butch King and his wife Debbie (left) stand with their daughter Paula Draeger (center) in front of the Seed of Hope garden at UAMS Winthrop P. Rockefeller Cancer Institute in Little Rock Dec. 4. Last month, King was able to place a seed of hope token into the garden, signifying he is cancer-free, thanks to a stem cell donation from his daughter.

Deacon Butch King was given a gift in 2017. He was diagnosed with a rare disease MDS/MPN, myelodysplastic/myeloproliferative neoplasm-unclassifiable to be exact.

The hybrid disease results when bone marrow overproduces unhealthy blood cells, according to University of Arkansas for Medical Sciences in Little Rock.

The diagnosis sent the family on a harrowing journey for the next two and a half years: four changes of insurance coverage and medical facilities, 19 rounds of chemotherapy, 430 lab results, 14 bone marrow biopsies, 11.25 gallons of donated blood and the disease progressing to Acute Myeloid Leukemia.

Looking at a deadly disease as a gift takes a radical faith in God, one that King and his wife Debbie have carried with grace to his cancer-free diagnosis Nov. 4.

It was given to us as a gift. And how do we manage gifts? We care for them, we nurture them, we polish them, show them off with pride and we give thanks to God. Those are his words, our words together. We had a gift and we had to manage it, we didnt get a choice, his wife said.

King was ordained a deacon in 2012, serving at Immaculate Conception Church in North Little Rock. The couple has four children, 12 grandchildren and six great-grandchildren, with another on the way in March. After 23 years of serving in the U.S. Air Force working in secure communications, he spent 22 years with the U.S. Postal Service.

In October 2016, he had a metal stent placed in his heart and could not have any surgeries for the following six months. In November of that year, he twisted his knee at work. When he was finally ready to have knee surgery in May, his lab work was irregular. In June they learned he had developed a rare blood disorder, MDS, which later in the year progressed to MPN. It required a stem cell transplant, with only a 30 percent chance of surviving a transplant.

I was kind of stunned at first, King said. As a deacon, he had been used to visiting the sick in nursing homes and hospitals.

This is one of the stories you can say, I know how you feel because Ive been there or were praying for you and really mean it, he said.

With every roadblock of insurance not covering the procedure or a hospital turning the transplant down because he was high risk, faith prevailed.

In December 2017, their youngest daughter Paula Draeger, 38, was a perfect match for a stem cell transplant, an extremely rare result.

OK, we can do this; were going to heal him. Weve got the perfect match. If this doesnt work, nothing will. So that was just kind of the reaction, lets do it, the married mother of two said.

Debbie King said, Shes a Spina bifida baby. We were told that she would be a vegetable when she had her spinal surgery. So shes a miracle to be here; long before this ever came God had a plan.

Once Medicare kicked in, insurance would cover a transplant if a clinical trial was available. It led the family to 13 visits to University of Oklahoma Stephenson Cancer Center in Oklahoma City, though they refused the transplant.

Debbie King said they specifically chose Oklahoma City because the family had been, and still are, praying daily for Blessed Stanley Rothers intercession.

The martyr, who grew up on a farm in Okarche, Okla., was declared blessed on Sept. 23, 2017, in Oklahoma City. He was killed in 1981 while serving his people in Guatemala.

He needed a miracle. And we said God provides miracles, Debbie King said.

Before we started any treatment we would place the entire illness and what would be happening at Blessed Stanley Rothers gravesite in Oklahoma City, visiting 11 times, she said.

Whats the miracle? The miracle is the faith. And thats what Butch has said, she said.

On March 13, the Kings were told they wouldnt be continuing the trial in Oklahoma.

We were ready to just be on maintenance and enjoy the days we had, she said. On March 14, our 44th wedding anniversary we were celebrating what we thought could be our last one.

But Dr. Appalanaidu Sasapu, hematologist oncologist with the UAMS Stem Cell Transplantation and Cellular Therapy Program, never gave up on them. Because Kings disease had progressed to leukemia in April, the stem cell procedure could now be done at UAMS and covered by insurance.

Draeger said the stem cell donations, done over a weekend via a port, were simple, with no side effects aside from building her energy up in the following week.

For what youre able to give somebody, what you have to endure pales in comparison to what hes been through and what you can give him, she said.

King no longer has the blood disease and is cancer free, though he will continue at least a years worth of chemotherapy treatments.

Since his diagnosis, they attend the smaller St. Patrick Church in North Little Rock for Mass, but he cannot yet return to ministry.

We do our prayer time in the mornings and evenings, we count our blessings every night before we go to bed and we just know, what was our blessing today? Did we see somebody that we havent seen before that God put in our path? Is it a new doctor who is going to take this on? King said.

But through this whole process weve been truly blessed, had no regrets. If I had to do it over, if thats the path of my life that God wants me to take, then Ill do it.

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Deacon Butch King learns to accept the 'gift' of cancer - Arkansas Catholic

LentiGlobin, Bluebird Bios investigational gene therapy for sickle cell disease (SCD), continues to show promising results in SCD patients participating in the companys Phase 1/2 HGB-206 clinical trial, according to the latest study data.

The new findings which included data from additional patients treated in the trial, updated data from those previously reported, and exploratory analyses were presented at the 61st American Society of Hematology (ASH) Annual Meeting and Exposition, held Dec. 6-10 in Orlando, Fla.

LentiGlobinisa gene therapy that has been developed to increase the levels of hemoglobin the protein that transports oxygen in the blood in people with SCD.

The therapy works by delivering functional copies of a modified form of the beta-globin gene (A-T87Q-globin gene) into patients red blood cell precursors, known as hematopoietic stem cells, or HSCs. Once these precursors differentiate, their red blood cells start producing a modified version of hemoglobin, called HbAT87Q.

By boosting the production of this anti-sickling form of the protein, LentiGlobin reduces the proportion of defective hemoglobin in patients red blood cells. That, in turn, reduces the sickling and destruction of these red blood cells and other complications associated with SCD.

The safety and efficacy of LentiGlobin is currently being evaluated in three groups identified as A-C of SCD patients participating in Bluebirds ongoing open-label, Phase 1/2 HGB-206 trial (NCT02140554).

Those in group A were treated per the original trial protocol. Meanwhile, those in groups B and C received an enhanced treatment protocol, approved in 2016, that is designed to increase the therapys efficiency. In groups A and B, patients HSCs were extracted from the bone marrow, while in group C, they were extracted from the blood.

As of the data cutoff date of August 26, 2019, seven participants in group A, two in group B, and 17 in group C had been treated with LentiGlobin. According to new data presented at the meeting, only two patients from group A required regular blood transfusions after the treatment.

In addition, the updated findings revealed that the levels of anti-sickling HbAT87Q remained stable in all participants from groups A and B over a post-treatment follow-up period of three years. Similarly, levels of total hemoglobin also were found to have remained stable in both patient groups over a two-year follow-up.

At the trial participants last visit, the median levels of anti-sickling HbAT87Q were 0.9 g/dL among those from group A, and 3.6 g/dL and 7.1 g/dL in the two patients from group B. The median levels of total hemoglobin were 9.0 g/dL among patients from group A, and 11.3 g/dL and 13.0 g/dL among those from group B.

Normal levels of hemoglobin in the blood range from 12.5 to 17.5 g/dL.

Among 12 patients from group C who were followed for at least six months, the median levels of anti-sickling HbAT87Q made up at least 40% of their total hemoglobin. At their last visit, the levels of anti-sickling HbAT87Q ranged from 2.7 to 9.0 g/dL, and the levels of total hemoglobin from 9.3 to 15.2 g/dL.

In groups A and B, LentiGlobin reduced the frequency of painful vaso-occlusive crises (VOCs) and acute chest syndrome (ACS) in the two years following treatment.

Nine patients from group C who were followed for at least six months had experienced four or more VOCs or ACS episodes in the two years prior to receiving LentiGlobin. Treatment with the gene therapy led to a reduction of 99% in the frequency of annual VOCs and ACS. In this group, there were no reports of ACS or severe VOCs for up to 21 months following treatment.

Moreover, among those from group C, LentiGlobin reduced the levels of different markers of red blood cells destruction, including reticulocytes, lactate dehydrogenase (LDH), and bilirubin.

LentiGlobins safety profile was consistent with previous data. No serious adverse events related to treatment were reported during the study. Only one mild, non-serious event of hot flush was found to be related to LentiGlobin. That event was rapidly resolved and did not require treatment.

Exploratory analyses were performed in a sub-group of patients from all three groups. In 12 participants who had been followed for at least six months, more than 70% of the individuals red blood cells were found to contain the anti-sickling HbAT87Q at the last study visit, these analyses showed. Moreover, in four of these patients, nearly all their red blood cells (90%) were positive for HbAT87Q.

In addition, exploratory analyses revealed that participants red blood cells were less prone to sickling following treatment with LentiGlobin.

At ASH, the growing body of data from our clinical studies of LentiGlobin for SCD reflects results from 26 treated patients with up to four years of follow-up, David Davidson, MD, Bluebird Bios chief medical officer, said in a press release.

We continue to observe patients treated in Group C producing high levels of gene-therapy derived anti-sickling hemoglobin, HbAT87Q, accounting for at least 40% of total hemoglobin in those with six or more months of follow-up, and exploratory assays show that HbAT87Q is present in most red blood cells of treated patients, Davidson said.

The robust production of HbAT87Q was associated with substantial reductions of sickle hemoglobin, HbS, as well as improvement in key markers of hemolysis [red blood cells destruction]. Most importantly, patients in Group C have not experienced any episodes of acute chest syndrome or serious vaso-occlusive crises following LentiGlobin for SCD treatment, he added.

The company is recruiting participants with transfusion-dependent -thalassemia (TDT) for a Phase 3 trial (NCT03207009) testing LentiGlobin. Moreover, according to the companys pipeline, there is a Phase 2/3 trial planned in sickle cell disease for this gene therapy.

Joana is currently completing her PhD in Biomedicine and Clinical Research at Universidade de Lisboa. She also holds a BSc in Biology and an MSc in Evolutionary and Developmental Biology from Universidade de Lisboa. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells cells that make up the lining of blood vessels found in the umbilical cord of newborns.

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Margarida graduated with a BS in Health Sciences from the University of Lisbon and a MSc in Biotechnology from Instituto Superior Tcnico (IST-UL). She worked as a molecular biologist research associate at a Cambridge UK-based biotech company that discovers and develops therapeutic, fully human monoclonal antibodies.

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LentiGlobin Gene Therapy Continues to Show Promising Results in SCD, Updated Trial Data Shows - Sickle Cell Anemia News

Why are we so secretive about this normal part of aging?

Perimenopause hit me like a ton of bricks.

One month, everything was steady and predictable. I knew when to expect my period and exactly how long it would last, and I had a pretty good idea of how I would feel throughout my 28-day cycle.

Then everything changed. The predictability ceased. For my period, the term heavy flow took on a whole new meaning. I experienced mid-cycle spotting in addition to all my other new menstrual cycle woes. Hot flashes, perhaps the most infamous of all the perimenopause symptoms, became a regular thing.

I went to see my gynecologist just to make sure there wasnt some other reason for my symptoms. There was not. At 46, Ive simply become perimenopausal, and there is no way to predict how long Ill stay this way.

That's because perimenopause, officially defined as the season in which the body makes its transition to menopause, can last for years and years (and years).

Only when you have gone twelve consecutive months without a period have reached menopause. Average age for menopause? 51 years old. Despite menopause and perimenopause being totally normal for anyone who has ovaries, it's a women's health issue that nobody seems to discuss.

In our society, aging is treated like something to be ashamed of and based on the profound lack of research into menopause, it can feel like the medical industry agrees.

If this feels like new information, you are not alone.

I had never even heard the term perimenopause until a couple of years ago and that is only because a nurse friend who specializes in womens health told me about it.

My similar-in-age pals report that they, too, were somewhat in the dark.

We knew menopause signified the end of menstrual periods but we didnt really understand that it followed a potentially lengthy transitional phase. Or that said transitional phase would, at times, feel more annoying than PMS. Or that perimenopause could be just plain embarrassing, thanks to gushers (a.k.a. extremely heavy periods that soak through tampons in less than an hour) and hot flashes that strike at the most inconvenient moments possible.

In middle school, we learned a lot about menstruation in health class. We also learned a lot about it from Judy Blume didnt every Gen X woman read Are You There God? Its Me, Margaret at some point?

Where are the health classes or relatable novels for people entering the perimenopause phase? Do they even exist?

I dont know. But I do know that people like me especially those of us nearing an age where perimenopause is likely need more information and more resources about this significant transition.

Most people dont know about the changes that can occur, says Ingrid Cherrytree, M.D., a gynecologist at Providence Womens Clinic in Portland, Ore. They tolerate a lot of symptoms for a long time before they decide to seek help for it.

And shes not just talking about heavy periods, irregular cycles and hot flashes. Those are just the tip of the iceberg. Perimenopause also brings the potential for loads of other undesirable symptoms, thanks to wildly fluctuating estrogen levels (technically speaking, estrogen production is slowing down and tapering off during perimenopause, but it can go down and up and back down again with seemingly no rhyme or reason).

According to WebMD, were talking about perimenopause symptoms like breast tenderness, vaginal dryness, urine leakage, sleep disturbances, low sex drive, migraines, mood swings, brain fog and weight gain. Splendid!

RELATED: 10 Disturbing Things Nobody Told Me About Going Through Menopause

Fortunately, despite the fact that we have a long way to go, the subject of perimenopause is not nearly as taboo as it used to be in part because women are talking about it more openly, rather than suffering in silence.

Since learning about perimenopause, Ive had several gab sessions with friends about our shared symptoms in recent months, and just the other day I mentioned perimenopause to a much-younger friend and her eyes didnt glaze over (at 33, mine would have).

Even more importantly, the topic is being addressed with greater frequency by researchers, doctors and professional organizations.

Last year, for example, the Journal of Womens Health published the first-ever guidelines for treating depression in perimenopausal women and in June the North American Menopause Society released a study indicating a possible explanation for frequent hot flashes in some women.

There was even study published in March that looked at the relationship between perimenopause and body composition/weight changes.

If you're surprised to learn that this research is new, you're not alone.

An August 2019 article in The Guardian asked the question, "The menopause: why so little research on the middle-aged ovary?"

As the article explains:

"Some scientists say they are met with puzzlement when trying to justify new research into possible treatments. Hormone replacement therapy has long been the most widely used intervention, but there is still a lack of basic understanding about how HRT interacts with a womans body."

To me, this is all very encouraging (not necessarily the results of the studies; just the fact that they even exist).

Maybe by the time my daughter reaches this stage perimenopause wont be so mysterious or humiliating. And, yes it can definitely be humiliating when, at the age of 40-something, heavy bleeding keeps you from your daily routine.

RELATED: 6 Sneaky Reasons Why Your Sex Drive Is Non-Existent

In the meantime, every woman experiencing perimenopause deserves to have her symptoms acknowledged and her feelings about the transition validated, says Dr. Cherrytree.

They are not making it up in their head(s), they are not going crazy, she says. It is true; all of these (symptoms) are happening.

And even though perimenopause is inevitable, suffering through it doesnt have to be. There are fixes, Dr. Cherrytree says.

Hormones are a great option, she says, referring to prescription-based hormone replacement therapy, like pills, patches and creams. They are safe for a lot of women and help control symptoms.

And how about natural alternatives to HRT, like soy or black cohosh, known for their estrogen-like properties? Some women I know swear by them.

Dr. Cherrytree says it is perfectly acceptable to give natural alternatives a try first. However, she also points out, from a medical standpoint these products havent really panned out to be all that helpful. Some may even produce dangerous side effects, so proceed with caution.

The most important thing about hormone replacement or the addition of hormones is that it is done in a safe manner with the correct balance (of estrogen and progesterone), she says, urging women to speak to their doctor before introducing any type of hormone replacement to their regimen.

RELATED: 1 in 5 Women Suffer In Silence With This Uncomfortable Condition

Unfortunately, there is no way to predict when perimenopause is coming, how long it will last, or how bothersome symptoms will be for any particular person.

Furthermore, there arent really any tests to confirm perimenopause status, she adds (estrogen and follicle-stimulating hormone levels are sometimes checked when doctors needs to sort out problems associated with perimenopause, but whacky levels are not true indicators, and normal levels don't necessarily rule out perimenopause).

The Guardian article notes that "[s]cientists are yet to decipher the chemical signals that stop ovarian follicles maturing into eggs when the overall egg reserve becomes low or uncover the role that ovarian cells other than eggs play in this process."

The only way to officially diagnose perimenopause is based on the symptoms you are experiencing

Sometimes it is helpful to talk to other female family members to see what they went through, but it doesnt always match up, says Dr. Cherrytree. After all, there has been surprisingly little research into the role genetics play in determining when a person will go through menopause, let alone when they will experience perimenopause.

In other words, everyone is different and there arent many good ways to predict what your experience will be like.

With some women, their period just gradually goes away. They have no hot flashes, no vaginal dryness. Things are just kind of easy and they are like oh, wow, that just kind of stopped and I barely noticed, Dr. Cherrytree says. For other women, it is a complete disaster.

And either end of the spectrum or somewhere in between is perfectly normal, she says.

The key is figuring out how to adapt to your new reality so you can get through perimenopause relatively unscathed.

For me, this means dressing in layers in case of untimely hot flashes and carrying around feminine hygiene products at all times (Ive noticed that gushers can come out of nowhere). Im also considering hormone replacement therapy, experimenting with some dietary changes to avoid weight gain and, most importantly, talking about it like it is a normal thing because it is a normal thing.

Oh, and about that weight gain. This is, naturally, one of the biggest concerns among the women Ive talked to about perimenopause. Excess abdominal fat? No, thank you. Sadly, our hormones are not working in our favor at this point.

While she stopped short of calling weight gain inevitable, Dr. Cherrytree did say that some people even those with very healthy habits have to figure out a new way of eating and a more efficient exercise routine, and not just in regards to your weight.

It is sort of like you have to reevaluate everything, and that is the hardest part, she says.

As someone going through perimenopause right now, I can confirm that feeling like everything you knew about your body and the way it works can be unsettling. But the more we talk about it and the more the medical and scientific communities work to support us and learn more about perimenopause (and menopause, too, for that matter) the better off we will be.

RELATED: How Menopause Affects Your Mental Health

Dawn Weinberger is a freelance health and business writer in Portland, Oregon. She has written for numerous publications including Glamour, The Checkup, Fundbox and many others. Find more at ;dawnweinberger.com.

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How The Symptoms Of Perimenopause Sneak Up On Women & How To Deal With Irregular Periods, Heavy Bleeding And Hot Flashes - YourTango

Looking to learn something new this festive season, or just get a break from revision or coursework? Check out these science book recommendations from the writers and editors of Epigram SciTech!

The Gene by Siddhartha Mukherjee (Esme Hedley, SciTech and Sport Subeditor)

This book is a comprehensive account of the history, science, and implications of our understanding of genes. Mukherjee walks us through genes rich history, fleshing out the lives of key scientists to show how recognition, influence, and legacy drive the race to a scientific breakthrough. He highlights how efforts to produce homogeneity in humans, seen in the eugenics movement, runs counter to evolution and natural selection. Not just for biology students, this book will appeal to those who want a richer understanding of one of the key concepts of science and how it has affected not only scientific and medical advances, but social policy. Although Mukherjee makes us realise the true power of our genes, he is careful to direct the reader away from any simplistic notion that our identities are determined by our genes.

Factfulness by Hans Rosling with Ola Rosling and Anna Rosling Rnnlund (Vilhelmiina, SciTech Editor)

This is one of my favourite non-fiction books, and one that got me interested in global health. Known to many from his 'bubble' graphics explaining international development, the late Hans Rosling was a dedicated champion of 'factfulness'; avoiding making assumptions without factual basis. The book covers ways in which our perspectives of development around the world are distorted, and most importantly, how we can correct ourselves. Factfulness is a wonderfully uplifting read, and has something to teach everyone about the world we live in.

| Holiday reads at home

Brief Answers to the Big Questions by Stephen Hawking (Isabel Bromfield, Second year, Mathematics)

Published posthumously, Brief Answers to the Big Questions is a collection of essays drawn from Hawkings personal archives that attempts to answer some of humanitys most pressing questions such as 'is there a God?' and 'how do we shape the future?'. More relaxed and less cerebral than Hawkings famous A Brief History of Time, this book lends a heart and a humour to otherwise intimidating subject matters and leaves the reader with a feeling of hope.

| Can reading and writing help mental health?

The Selfish Gene by Richard Dawkins (Annie La Vespa, Third year, Biology)

The Selfish Gene is a classic, which explores how individuals are merely vessels helping to facilitate a genes quest for eternity. Dawkins uses many examples to illustrate how genes have the power to control our future which may seem initially unsettling to some readers. However, the book does go onto describe how mankind has the capacity to reclaim this power back through conscious rebellion. This exciting read powerfully articulates fundamental ideas of Neo-Darwinism to a wide audience and has prompted extensive further research in the biology community.

The Order of Time by Carlo Rovelli (Isobel O'Loughlin, Deputy SciTech Editor)

Translated from Italian just last year, The Order of Time is a wonderfully poetic exploration into the physics and philosophy of time. Rovelli - a theoretical physicist - guides the reader through general relativity and quantum theory in a way that is not only accessible, but beautiful. He draws on centuries of science, art and philosophy to show us how far our perception of time is from the reality.

Inferior by Angela Saini (Jenna Ram, PhD Chemistry)

As you read Inferior it becomes glaringly obvious how the scientific community's approach to the sex differences debate has been totally biased. Saini suggests we re-examine what we have accepted as fundamental truths in sex science as she presents a mountain of counter-research across fields such as neuroscience, evolutionary biology, anthropology and primatology revealing just how patriarchal the current foundations are. The new evidence shatters the gender stereotypes that science has told us to accept as biological truths; eye-opening examples calls into question the idea that male and female brains are just wired differently, that sex differences are just inherited and unchangeable thanks to genetics. It considers the possibility of females in the hunter-gatherer epoch taking part in hunting and not just sitting pretty waiting for the man to bring home the bacon, and crucially it addresses the possibility of females not being the primary caregiver in the family. Written in a balanced way examining all theories, new and old, it approaches the debate on sex differences as it should be - fairly.

All book cover photos courtesy of Waterstones

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Brainy books for the winter break - Epigram

The Global Male Hypogonadism Market Outlook Report is a comprehensive study of the Male Hypogonadism industry and its future prospects.. The Male Hypogonadism market accounted for $XX million in 2018, and is expected to reach $XX million by 2024, registering a CAGR of YY% from 2019 to 2024.

Lack of sex hormones, generally referred to male hypogonadism, results into several health risks such as osteoporosis and heart disease, owing to thinning of bones. The global market for male hypogonadism comprises several patented brands with high market penetration. Growth in geriatric population along with rising incidences of rheumatoid arthritis and obesity are primary factors influencing prevalence of male hypogonadism.Read Report Details at https://www.proaxivereports.com/10480

List of key players profiled in the Male Hypogonadism market research report:

Endo International Plc, Eli Lilly and Company Ltd., AbbVie, Inc., Pfizer, Inc., Merck KGaA, Allergan Plc, Sun Pharmaceutical Industries Limited, Ferring B.V.

By TherapyTestosterone Replacement Therapy, Gonadotropin Replacement Therapy ,

By Drug TypeTopical Gels, Injectables, Transdermal Patches, Others ,

By Disease TypeKlinefelters Syndrome, Pituitary Adenomas, Kallmann Syndrome, Other Types ,

By

By

By

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The global Male Hypogonadism market is segmented based on product, end user, and region.

Region wise, it is analyzed across North America (U.S., Canada, and Mexico), Europe (Germany, UK, Italy, Spain, France, and rest of Europe), Asia-Pacific (Japan, China, Australia, India, South Korea, Taiwan, and, rest of Asia-Pacific) and EMEA (Brazil, South Africa, Saudi Arabia, UAE, rest of EMEA).

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Moreover, other factors that contribute toward the growth of the Male Hypogonadism market include favorable government initiatives related to the use of Male Hypogonadism. On the contrary, high growth potential in emerging economies is expected to create lucrative opportunities for the market during the forecast period.

Key Benefits for Stakeholders from Male Hypogonadism Market Report:

This report entails a detailed quantitative analysis along with the current global Male Hypogonadism market trends from 2019 to 2026 to identify the prevailing opportunities along with the strategic assessment.The Male Hypogonadism market size and estimations are based on a comprehensive analysis of key developments in the industry.A qualitative analysis based on innovative products facilitates strategic business planning.The development strategies adopted by the key market players are enlisted to understand the competitive scenario of the Male Hypogonadism industry.

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Male Hypogonadism Market with Future Prospects, Key Player SWOT Analysis and Forecast To 2024 - Exponent Online

TMRR, suggest in its latest market report, that the Stem Cell Therapy market report is about to exceed US$ xx Mn/Bn by 2029. The report finds that the Stem Cell Therapy market registered ~US$ xx Mn/Bn in 2018 and is projected to expand at a healthy CAGR over the foreseeable period.

The Stem Cell Therapy market research focuses on the market structure along with various factors (positive and negative) that influence the market growth. The study contains a precise evaluation of the Stem Cell Therapy market, including growth rate, current market scenario, and volume inflation prospects, on the basis of DROT and Porters Five Forces analyses.

Important players profiled in the Stem Cell Therapy market research include player 1, player 2, player 3 and player 4.

In this Stem Cell Therapy market study, the following years are considered to project the market footprint:

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Key Trends

The key factors influencing the growth of the global stem cell therapy market are increasing funds in the development of new stem lines, the advent of advanced genomic procedures used in stem cell analysis, and greater emphasis on human embryonic stem cells. As the traditional organ transplantations are associated with limitations such as infection, rejection, and immunosuppression along with high reliance on organ donors, the demand for stem cell therapy is likely to soar. The growing deployment of stem cells in the treatment of wounds and damaged skin, scarring, and grafts is another prominent catalyst of the market.

On the contrary, inadequate infrastructural facilities coupled with ethical issues related to embryonic stem cells might impede the growth of the market. However, the ongoing research for the manipulation of stem cells from cord blood cells, bone marrow, and skin for the treatment of ailments including cardiovascular and diabetes will open up new doors for the advancement of the market.

Global Stem Cell Therapy Market: Market Potential

A number of new studies, research projects, and development of novel therapies have come forth in the global market for stem cell therapy. Several of these treatments are in the pipeline, while many others have received approvals by regulatory bodies.

In March 2017, Belgian biotech company TiGenix announced that its cardiac stem cell therapy, AlloCSC-01 has successfully reached its phase I/II with positive results. Subsequently, it has been approved by the U.S. FDA. If this therapy is well- received by the market, nearly 1.9 million AMI patients could be treated through this stem cell therapy.

Another significant development is the granting of a patent to Israel-based Kadimastem Ltd. for its novel stem-cell based technology to be used in the treatment of multiple sclerosis (MS) and other similar conditions of the nervous system. The companys technology used for producing supporting cells in the central nervous system, taken from human stem cells such as myelin-producing cells is also covered in the patent.

Global Stem Cell Therapy Market: Regional Outlook

The global market for stem cell therapy can be segmented into Asia Pacific, North America, Latin America, Europe, and the Middle East and Africa. North America emerged as the leading regional market, triggered by the rising incidence of chronic health conditions and government support. Europe also displays significant growth potential, as the benefits of this therapy are increasingly acknowledged.

Asia Pacific is slated for maximum growth, thanks to the massive patient pool, bulk of investments in stem cell therapy projects, and the increasing recognition of growth opportunities in countries such as China, Japan, and India by the leading market players.

Global Stem Cell Therapy Market: Competitive Analysis

Several firms are adopting strategies such as mergers and acquisitions, collaborations, and partnerships, apart from product development with a view to attain a strong foothold in the global market for stem cell therapy.

Some of the major companies operating in the global market for stem cell therapy are RTI Surgical, Inc., MEDIPOST Co., Ltd., Osiris Therapeutics, Inc., NuVasive, Inc., Pharmicell Co., Ltd., Anterogen Co., Ltd., JCR Pharmaceuticals Co., Ltd., and Holostem Terapie Avanzate S.r.l.

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The content of the Stem Cell Therapy market report includes the following insights:

The Stem Cell Therapy market study answers critical questions including:

All the players running in the global Stem Cell Therapy market are elaborated thoroughly in the Stem Cell Therapy market report on the basis of R&D developments, distribution channels, industrial penetration, manufacturing processes, and revenue. In addition, the report examines, legal policies, and comparative analysis between the leading and emerging Stem Cell Therapy market players.

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Stem Cell Therapy Market Forecasted To Surpass The Value Of US$ XX Mn/Bn By 2045 2017 - 2025 - Markets Gazette 24

Stem Cell Therapy Market: Snapshot

Of late, there has been an increasing awareness regarding the therapeutic potential of stem cells for management of diseases which is boosting the growth of the stem cell therapy market. The development of advanced genome based cell analysis techniques, identification of new stem cell lines, increasing investments in research and development as well as infrastructure development for the processing and banking of stem cell are encouraging the growth of the global stem cell therapy market.

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One of the key factors boosting the growth of this market is the limitations of traditional organ transplantation such as the risk of infection, rejection, and immunosuppression risk. Another drawback of conventional organ transplantation is that doctors have to depend on organ donors completely. All these issues can be eliminated, by the application of stem cell therapy. Another factor which is helping the growth in this market is the growing pipeline and development of drugs for emerging applications. Increased research studies aiming to widen the scope of stem cell will also fuel the growth of the market. Scientists are constantly engaged in trying to find out novel methods for creating human stem cells in response to the growing demand for stem cell production to be used for disease management.

It is estimated that the dermatology application will contribute significantly the growth of the global stem cell therapy market. This is because stem cell therapy can help decrease the after effects of general treatments for burns such as infections, scars, and adhesion. The increasing number of patients suffering from diabetes and growing cases of trauma surgery will fuel the adoption of stem cell therapy in the dermatology segment.

Global Stem Cell Therapy Market: Overview

Also called regenerative medicine, stem cell therapy encourages the reparative response of damaged, diseased, or dysfunctional tissue via the use of stem cells and their derivatives. Replacing the practice of organ transplantations, stem cell therapies have eliminated the dependence on availability of donors. Bone marrow transplant is perhaps the most commonly employed stem cell therapy.

Osteoarthritis, cerebral palsy, heart failure, multiple sclerosis and even hearing loss could be treated using stem cell therapies. Doctors have successfully performed stem cell transplants that significantly aid patients fight cancers such as leukemia and other blood-related diseases.

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Global Stem Cell Therapy Market: Key Trends

The key factors influencing the growth of the global stem cell therapy market are increasing funds in the development of new stem lines, the advent of advanced genomic procedures used in stem cell analysis, and greater emphasis on human embryonic stem cells. As the traditional organ transplantations are associated with limitations such as infection, rejection, and immunosuppression along with high reliance on organ donors, the demand for stem cell therapy is likely to soar. The growing deployment of stem cells in the treatment of wounds and damaged skin, scarring, and grafts is another prominent catalyst of the market.

On the contrary, inadequate infrastructural facilities coupled with ethical issues related to embryonic stem cells might impede the growth of the market. However, the ongoing research for the manipulation of stem cells from cord blood cells, bone marrow, and skin for the treatment of ailments including cardiovascular and diabetes will open up new doors for the advancement of the market.

Global Stem Cell Therapy Market: Market Potential

A number of new studies, research projects, and development of novel therapies have come forth in the global market for stem cell therapy. Several of these treatments are in the pipeline, while many others have received approvals by regulatory bodies.

In March 2017, Belgian biotech company TiGenix announced that its cardiac stem cell therapy, AlloCSC-01 has successfully reached its phase I/II with positive results. Subsequently, it has been approved by the U.S. FDA. If this therapy is well- received by the market, nearly 1.9 million AMI patients could be treated through this stem cell therapy.

Another significant development is the granting of a patent to Israel-based Kadimastem Ltd. for its novel stem-cell based technology to be used in the treatment of multiple sclerosis (MS) and other similar conditions of the nervous system. The companys technology used for producing supporting cells in the central nervous system, taken from human stem cells such as myelin-producing cells is also covered in the patent.

Global Stem Cell Therapy Market: Regional Outlook

The global market for stem cell therapy can be segmented into Asia Pacific, North America, Latin America, Europe, and the Middle East and Africa. North America emerged as the leading regional market, triggered by the rising incidence of chronic health conditions and government support. Europe also displays significant growth potential, as the benefits of this therapy are increasingly acknowledged.

Asia Pacific is slated for maximum growth, thanks to the massive patient pool, bulk of investments in stem cell therapy projects, and the increasing recognition of growth opportunities in countries such as China, Japan, and India by the leading market players.

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Global Stem Cell Therapy Market: Competitive Analysis

Several firms are adopting strategies such as mergers and acquisitions, collaborations, and partnerships, apart from product development with a view to attain a strong foothold in the global market for stem cell therapy.

Some of the major companies operating in the global market for stem cell therapy are RTI Surgical, Inc., MEDIPOST Co., Ltd., Osiris Therapeutics, Inc., NuVasive, Inc., Pharmicell Co., Ltd., Anterogen Co., Ltd., JCR Pharmaceuticals Co., Ltd., and Holostem Terapie Avanzate S.r.l.

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Stem Cell Therapy Market Detailed Analysis and Forecast 2017-2025 - Montana Ledger

Transparency Market Research (TMR) has published a new report on the global cell separation technology market for the forecast period of 20192027. According to the report, the global cell separation technology market was valued at ~ US$ 5 Bn in 2018, and is projected to expand at a double-digit CAGR during the forecast period.

Cell separation, also known as cell sorting or cell isolation, is the process of removing cells from biological samples such as tissue or whole blood. Cell separation is a powerful technology that assists biological research. Rising incidences of chronic illnesses across the globe are likely to boost the development of regenerative medicines or tissue engineering, which further boosts the adoption of cell separation technologies by researchers.

Expansion of the global cell separation technology market is attributed to an increase in technological advancements and surge in investments in research & development, such as stem cell research and cancer research. The rising geriatric population is another factor boosting the need for cell separation technologies Moreover, the geriatric population, globally, is more prone to long-term neurological and other chronic illnesses, which, in turn, is driving research to develop treatment for chronic illnesses. Furthermore, increase in the awareness about innovative technologies, such as microfluidics, fluorescent-activated cells sorting, and magnetic activated cells sorting is expected to propel the global cell separation technology market.

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North America dominated the global cell separation technology market in 2018, and the trend is anticipated to continue during the forecast period. This is attributed to technological advancements in offering cell separation solutions, presence of key players, and increased initiatives by governments for advancing the cell separation process. However, insufficient funding for the development of cell separation technologies is likely to hamper the global cell separation technology market during the forecast period. Asia Pacific is expected to be a highly lucrative market for cell separation technology during the forecast period, owing to improving healthcare infrastructure along with rising investments in research & development in the region.

Rising Incidences of Chronic Diseases, Worldwide, Boosting the Demand for Cell Therapy

Incidences of chronic diseases such as diabetes, obesity, arthritis, cardiac diseases, and cancer are increasing due to sedentary lifestyles, aging population, and increased alcohol consumption and cigarette smoking. According to the World Health Organization (WHO), by 2020, the mortality rate from chronic diseases is expected to reach 73%, and in developing counties, 70% deaths are estimated to be caused by chronic diseases.

Southeast Asia, Eastern Mediterranean, and Africa are expected to be greatly affected by chronic diseases. Thus, the increasing burden of chronic diseases around the world is fuelling the demand for cellular therapies to treat chronic diseases. This, in turn, is driving focus and investments on research to develop effective treatments. Thus, increase in cellular research activities is boosting the global cell separation technology market.

Increase in Geriatric Population Boosting the Demand for Surgeries

The geriatric population is likely to suffer from chronic diseases such as cancer and neurological disorders more than the younger population. Moreover, the geriatric population is increasing at a rapid pace as compared to that of the younger population. Increase in the geriatric population aged above 65 years is projected to drive the incidences of Alzheimers, dementia, cancer, and immune diseases, which, in turn, is anticipated to boost the need for corrective treatment of these disorders. This is estimated to further drive the demand for clinical trials and research that require cell separation products. These factors are likely to boost the global cell separation technology market.

According to the United Nations, the geriatric population aged above 60 is expected to double by 2050 and triple by 2100, an increase from 962 million in 2017 to 2.1 billion in 2050 and 3.1 billion by 2100.

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Productive Partnerships in Microfluidics Likely to Boost the Cell Separation Technology Market

Technological advancements are prompting companies to innovate in microfluidics cell separation technology. Strategic partnerships and collaborations is an ongoing trend, which is boosting the innovation and development of microfluidics-based products. Governments and stakeholders look upon the potential in single cell separation technology and its analysis, which drives them to invest in the development of microfluidics. Companies are striving to build a platform by utilizing their expertise and experience to further offer enhanced solutions to end users.

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Cell Separation Technology Market is Expected to Elevate to a Value of US$ 13.6 Bn by 2027 - Techi Labs

Diabetes Mellitus is a disease that involves impaired glucose metabolism. Sudden adverse changes in blood glucose (high or low) can lead to altered mental status, to seizures, and even death. Long-term complications include damage to end organs, such as eyes, kidneys, heart, and the neurological system.

Further, this is a condition that would renderan existing medical certificate invalid from the moment the pilot knew of the diagnosis, regardless of any theoretical period of validity that might appear to remain for that certificate.

Are all pilots with diabetes grounded indefinitely? Is there any hope for a pilot with diabetes to fly again? What about commercially?

The answers are reassuring. Private pilots with well-controlled diabeteshave been flying for many years. And a recently implemented program with the support of the Federal Air Surgeon will now enable even more diabetics to return to commercial flying.

Without going into an elaborate explanation of itsphysiology, lets break diabetes down into two categories: non-insulin-dependent and insulin-dependent.

Insulin is a hormone that is released by the pancreas in response to blood glucose levels. All body tissues use glucose for energy. When blood glucose rises, the pancreas secretes insulin, permitting the bodily tissues to store and use glucose for various metabolic functions.

In certain cases of diabetes, the production of insulin is significantly decreased or completely absent. Common names include juvenile, type 1, or insulin-dependent diabetes (IDDM). Dont let the term juvenile confuse the situation, as there are times when insulin dependence might not occur until well into adulthood.

The relevant premise here is that the body has stopped producing sufficient insulin to regulate blood glucose, regardless of the persons age. You might also see the term insulin-treated diabetes (ITDM) in various publications, and for the purposes of FAA medical certification, IDDM and ITDM can be used synonymously.

In other cases, the bodily tissues have become resistant to the insulin that the pancreas is dutifully producing (obesity is a common cause of insulin resistance). Terms familiar to most people include adult-onset, type 2, or non-insulin-dependent diabetes.

Google mellitus for the amusing reference of how that word became part of the lore of diabetes centuries ago. I will provide more pathophysiologic information when I discuss the individual types of diabetes and the respective FAA certification programs more specifically in future submissions.

Therefore, I wont go into the formalities and minutia of how to diagnose, treat, and monitor diabetes in this discussion. Suffice it to say that poorly-controlled diabetes poses a significant threat to aviation safety, not to mention long-term health.

Diabetes that can be controlled with diet, exercise, and weight loss is the proverbial no-brainer in FAA medical certification. Anything a pilot can do without medical intervention is always preferable for long-term health maintenance.

All classes of medical certificates can be easily obtained in this setting and usually a special issuance is not required (at times this is followed through a slightly amended protocol for pre-diabetes that Ill discuss at a future date).

The necessity for oral and some of the injectable non-insulin medications that lower blood glucose to control diabetes also does not preclude FAA medical certification. In this case, while the pilot will be followed under a special issuance authorization, all classes of medical certificates are again included in this protocol. I have had many pilots flying commercially on first- and second-class medical certificates for many years who are taking oral diabetic medications.

If a pilot requires insulin, however, things change. Before 1996, any insulin-dependent pilot was unable to fly (all classes of medical certificates were excluded). Beginning in 1996, pilots could obtain a third-class FAA medical certificate if they are taking insulin and their diabetes is well controlled.

Fortunately, the program for third-class IDDM pilots has been a great success. The very rare adverse in-flight incidents over the years with diabetic pilots usually have occurred in pilots with poorly controlled diabetes who likely would not havebeen granted a special issuance authorization in the first place.

A pilot who requires insulin for treatment has been excluded for classes of FAA medical certificates higher than third-class until just recently. I have been a vocal advocate to the FAA and its various Federal Air Surgeons over the years that well-controlled IDDM pilots should be considered for first- and second-class certification.

With the current precise continuous glucose monitoring (CGM) electronics and advancements available, an insulin-dependent diabetic is now able to maintain tightly-controlled blood glucose levels.

In 2002, Canada began permitting IDDM pilots to fly commercially in a multi-pilot crew environment. The UK began doing so in 2012, and now the U.S. joined that group last month (on November 7).

Notably, there is no restriction in the FAA protocol that an IDDM pilot must be in a crew environment. Thus, an FAA-licensed pilot with a special issuance for IDDM can fly single-pilot so long as all provisions are met. The FARs dont permit the FAA to put restrictions such as must be part of a multi-pilot crew on first-class medical certificates.

There are also several other countries that permit private flying in pilots with various forms of diabetes.

As you can imagine, the FAA was very cautious and reviewed the advances in diabetic management technologies methodically over many years before authorizing this new program. No different than any other special issuance program, the FAA did not want aviation accidents resulting from a poorly conceived program.

This would, of course, be a tragedy for anyone involved in the accident and could jeopardize the entire program itself. Out of respect for caution, the FAA spent many years working on this program. And now, its finally here!

However, the requirements are probably the most extensive of any special issuance program that we have. There will be ongoing evaluations of numerous organ systems. In addition to using the latest technology to monitor and treat a pilot's diabetes, evaluations will be ongoing for eyes, heart, kidneys, and neurological systems.

The data presentation to the FAA is also extensive and thorough. As with some of the other special issuance conditions, the FAA has developed comprehensive checklistsfor pilots, their AMEs, and the treating physiciansand flow sheets to assist in the detailed data presentation to the FAA. Ongoing CGM data will also be required.

As exhaustive as this program is, it has finally opened the world of commercial flying to IDDM pilots who require a first- or second-class FAA medical certificate. I am hopeful that the program will be as successful as the earlier program for third-class pilots has been.

Those with IDDM are often some of the most motivated pilots there are, and the new gadgetry involved has demonstrated to the FAA that precise control of diabetes can indeed be achieved and, therefore, such pilots do not pose a threat to aviation safety. Thus, it is predicted that IDDM pilots will be able to fly safely in commercial operationson first- and second-class special issuance authorizationsin the U.S.

For a pilot to obtain a special issuance authorization under this new IDDM protocol, they will need an organized and motivated team of support. The pilot, first and foremost, must adequately control their diabetes using modern electronics, including CGM devices, as that also will improve the likelihood of maintaining long-term health.

Next, the treating physician must be willing to complete thorough FAA flow sheets and, at select times, consulting physicians will have to provide evaluation data of the other organ systems mentioned above. Finally, the AME must be willing to choreograph all of the data into a packet that will be acceptable to the FAA.

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AINsight: Diabetes and Flying | Business Aviation - Aviation International News