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Private clinics’ unproven stem cell treatment is unsafe and unethical – Business Standard

Professional medical organisations have raised concerns about these expensive cell therapies

Stem cell science is an area of medical research that continues to offer great promise. But as this weeks paper in Science Translational Medicine highlights, a growing number of clinics around the globe, including in Australia, are exploiting regulatory gaps to sell so-called stem cell treatments without evidence that what they offer is effective or even safe.

Such unregulated direct-to-consumer advertising typically of cells obtained using liposuction-like methods not only places the health of individuals at risk but could also undermine the legitimate development of stem cell-based therapies.

Many academic societies and professional medical organisations have raised concerns about these futile and often expensive cell therapies. Despite this, national regulators have typically been slow or ineffective in curtailing them.

As well as tighter regulations here, international regulators such as the World Health Organisation and the International Council on Harmonisation need to move on ensuring patients desperate for cures arent sold treatments with limited efficacy and unknown safety.

So whats on offer?

Hundreds of stem cell clinics post online claims that they have been able to treat patients suffering from a wide range of conditions. These include osteoarthritis, pain, spinal cord injury, multiple sclerosis, diabetes and infertility. The websites are high on the rhetoric of science often using various accreditation, awards and other tokens to imply legitimacy but low on proof that they work.

Rather than producing independently verified results, these clinics rely on patient testimonials or unsubstantiated claims of improvement. In so doing these shonky clinics understate the risks to patient health associated with these unproven stem cell-based interventions.

Properly administered informed consent is often overlooked or ignored, so patients can be misled about the likelihood of success. In addition to heavy financial burdens imposed on patients and their families, there is often an opportunity cost because the time wasted in receiving futile stem cells diverts patients away from proven medicines.

The many recent reports of adverse outcomes demonstrate the risks of receiving unproven cell therapies are not trivial. In the USA three women were blinded following experimental stem cell treatment for macular degeneration (a degenerative eye disease that can cause blindness). One man was rendered a quadriplegic following a stem cell intervention for stroke. And a woman whose family sought treatment for her dementia died in Australia.

Other notorious cases involving the deaths of patients include the German government shutting down the X-Cell Centre and the Italian government closing the Stamina Foundation it had previously supported.

Whats approved?

At present, the only recognised stem cell treatments are those utilising blood stem cells isolated from bone marrow, peripheral blood (the cellular components of blood such as red and white blood cells and platelets) or umbilical cord blood.

Hundreds of thousand of lives have been saved over the last half-century in patients with cancers such as leukaemia, lymphoma and multiple myeloma, as well as rare inherited immune and metabolic disorders.

A few types of cancer and autoimmune diseases may also benefit from blood stem cells in the context of chemotherapy. Different stem cells are also successfully used for corneal and skin grafting.

All other applications remain in the preclinical research phase or are just starting to be evaluated in clinical trials.

Often dismissed by for-profit clinics as red tape hampering progress, the rigour of clinical trials allows for the collection of impartial evidence. Such information is usually required before a new drug or medical device is released into the marketplace. Unfortunately, in the case of for-profit stem cell clinics, their marketing has gazumped the scientific evidence.

The action is required on many fronts. Regulators at both an international and national level need to tackle regulatory loopholes and challenge unfounded marketing claims of businesses selling unproven stem cell interventions.

Researchers need to more clearly communicate their findings and the necessary next steps to responsibly take their science from the laboratory to the clinic. And they should acknowledge that this will take time.

Patients and their loved ones must be encouraged to seek advice from a trained reputable health care professional, someone who knows their medical history. They should think twice if someone is offering a treatment outside standards of practice.

The stakes are too high not to have these difficult conversations. If a stem cell treatment sounds too good to be true, it probably is.

For more information on recognised stem cell treatments visit the National Stem Cell Foundation of Australia and Stem Cells Australia, Choice Australia, EuroStemCell, International Society for Stem Cell Research, and International Society for Cellular Therapy.

Megan Munsie, Deputy Director – Centre for Stem Cell Systems and Head of Education, Ethics, Law & Community Awareness Unit, Stem Cells Australia, University of Melbourne and John Rasko, Clinical Haematologist and President-Elect, International Society for Cellular Therapy., University of Sydney

This article was originally published on The Conversation. Read the original article.

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Private clinics’ unproven stem cell treatment is unsafe and unethical – Business Standard

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Surprise Period Hormones Don’t Scramble Your Brain –

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Its hard to get away from stereotypes connected to our periods. The trope of women being angry, emotional and even less able to perform on the job during that time of the month is old and tired, but it persists. Even the president of the United States cant seem to stop bringing up blood in connection with prominent women he wants to disparage. Now, a first-of-its-kind study published July 4 in Frontiers in Behavioral Neuroscience provides some scientific proof for what most people with periods already know: Our hormones dont keep our brains from properly functioning.

More:What’s happening to your body each day of your menstrual cycle

Researchers at University Hospital Zrich, led by Dr. Brigitte Leeners, monitored the estrogen levels of 68 women of varying ages throughout two menstrual cycles. During their periods, the subjects participated in neuropsychological tests to measure their visual memory, attention and cognitive bias. The researchers didn’t take into account things like food cravings, emotions, or sexual stimuli for this study, because those measures “do not assess prefrontal cognitive abilities.” They found no meaningful connection between estrogen levels and cognitive function. The biggest takeaway came from comparing the two cycles: Even when a person experienced some cognitive discomfort during one cycle, that same person often did not experience the same thing during the next period.

More:Periods don’t stop women from becoming leaders negative stereotypes do

Previous studies looked at only one menstrual cycle, introducing bias and ultimately fueling stereotypes, according to Leeners.

They resulted in false positive associations and the false conclusion that womens cognitive performance is hormone regulated, she said. Such an assumption is the background of the myth that womens cognitive performance is strongly influenced by the menstrual cycle and any resulting prejudice toward womens abilities in private and professional life.

More:Premenstrual Dysphoric Disorder May Be Linked to How Cells Process Sex Hormones

These findings are great for science because they answer a big question that many researchers have blamed for a lack of research into womens health issues the difficulty of controlling for menstruation when studying pretty much anything else about the body or mind. Much medical research, for example, is done on men in part because researchers are reluctant to have to control for periods and because especially in the U.S. digging into potential gender differences in the body and brain is often controversial.

Dr. Louann Brizendine, a neuropsychiatrist and author of the books The Female Brain and The Male Brain, said the results seem to confirm decades of experience. She has found that about 80 percent of women report feeling more uncomfortable physical and mood symptoms during some cycles than during others, but only about 8 percent report debilitating noticeable discomfort during every period. That 8 percent is typically the group that makes its way to Brizendines clinic, the Womens Mood and Hormone Clinic at the University of California San Francisco. Brizendine opened the clinic in 1988 and says she hoped that by now there would be copycats around the country. Thats not yet the case, but she is hopeful that increased interest and funding for womens health will change that.

Dr. Mary Jane Minkin, an OB-GYN and professor at Yale University School of Medicine, cautions that this new research shouldnt keep doctors from taking menstruation-related health complaints seriously. Premenstrual dysphoric disorder, which causes significant and life-affecting mood shifts before ones period, affects about 5 percent of women and is often misdiagnosed. But the good news is that those symptoms and others such as cramping can usually be addressed with birth control, an SSRI or in some cases over-the-counter medication.

Ive been in practice since 1979, and I can honestly say I dont think Ive ever taken care of a patient in my life who was significantly impaired by one part of her cycle that she couldnt put her finger on the atomic button, Minkin told SheKnows. There are hormones at play with memory and cognition, but I dont think its anything that cant be overcome. Do some women feel depressed? Yes. Debilitated? No.

Next, Leeners team in Zrich plans to look into the science behind hormonal cravings. But for now, let’s stop discounting the mental capacity of people who menstruate, OK?

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Surprise Period Hormones Don’t Scramble Your Brain –

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Does Having My Thyroid Removed Affect My Heart? – Health Essentials from Cleveland Clinic (blog)

Q: Does having my thyroid removed affect my heart?

A: The thyroid is really important because thyroid levels control your energy level and heart rate, your bowel function and your concentration. When you have your thyroid removed, its really important to replace the thyroid hormone to the appropriate amount so you can still function normally. Your endocrinologist, primary care doctor or your cardiologist should be checking your thyroid hormones level, which is called the TSH, to make sure its where it needs to be. With too much thyroid hormone, your heart may be racing. If you have too little, your heart pumping function may be reduced. In extreme situations, you may even have very low energy and have something called myxedema coma. These are just a few examples of the effects of thyroid hormone on the heart.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy

Preventive cardiologistHaitham Ahmed, MD, MPH

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This Study Could Help Extend the Human Lifespan – Futurism

In BriefResearchers have identified a single gene deletion in E. colibacteria that influence longevity in C. elegans worms. This pointsto the role of gut bacteria in life extension and points to thepossibility of a life-extending probiotic in the future.

Researchers at the Baylor College of Medicine have found the key to longevity in Caenorhabditis elegans (C. elegans) worms and maybe, someday, humans. The team noticed that genetically identical worms would occasionally live for much longer, and looked to their gut bacteria to find the answer. They discovered that a strain of E. coli with a single gene deletion might be the reason that its hosts lives were being significantly extended.

This study is one among a number of projects that focus on the influence of the microbiome the community of microbes which share the body of the host organism on longevity. Ultimately, the goal of this kind of research is to develop probiotics that could extend human life. Ive always studied the molecular genetics of aging, Meng Wang, one of the researchers who conducted the study, told The Atlantic. But before, we always looked at the host. This is my first attempt to understand the bacterias side.

Even in cases like this, where it seems fairly obvious that the microbiome is influencing longevity, parsing out the details of how and why this happens among a tremendous variety of chemicals and microbe species is extremely complex. The team, in this case, was successful because they simplified the question and focused on a single relationship.

Genetically engineering bacteria to support and improve human health and even to slow aging and turning it into a usable, life-extending probiotic wont be easy. It is extremely difficult to make bacteria colonize the gut in a stable manner, which is a primary challenge in this field. The team, in this case, is looking to the microbiome, because the organisms used would be relatively safe to use because they would originate in the gut.

Clearly, researchers dont know yet whether these discoveries will be able to be applied to people, though it seems promising. Despite the obvious differences between the tiny C. elegans worm and us, its biology is surprisingly similar; many treatments that work well in mice and primates also work in the worm. The team will begin experiments along these same lines with mice soon.

Other interesting and recent research hoping to stop or slow the march of time includes work with induced pluripotent stem (iPS) cells, antioxidants that target the mitochondria, and even somewhat strangework with cord blood. It seems very likely that we wont have a single solution offering immortality anytime soon, but instead a range of treatment options that help to incrementally hold back time. And, with an improving quality of life, this kind of life extension sounds promising.

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Nilgiris pale tiger an ‘aberrant genetic mutation’ – The Hindu

The Hindu
Nilgiris pale tiger an 'aberrant genetic mutation'
The Hindu
While the pale tiger of the Nilgiris has won global attention, it could be just an instance of an aberrant genetic mutation, say experts. This is interesting because no pale tiger has been recorded in south India so far, says Yadvendradev Jhala

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Nilgiris pale tiger an ‘aberrant genetic mutation’ – The Hindu

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Evolution and war: The ‘deep roots’ theory of human violence – Genetic Literacy Project

The world learned the details of the Islamic States systemic rape and slavery of women through shocking stories told to the New York Times in 2015.Our collective outrage also showed how war has changed. Rape, torture and slavery are considered beyond taboo; they are criminalized even in war. This archaic behavior is not supposed to happen in our modern world.

But thats a pretty recent development. Systemic rape used to go hand in hand with war as women, resources and landswere assimilated into the victors communities. The victorious menhad more children, more land and more power. Some researchers have argued that this is proof of the deep roots theory of war: Human males fight each other for reproductive advantage, proving that war is an evolutionary advantageous behavior.

But this theory has been hard to prove. In fact, studies of human groups and other primates have added to the evidence both for and against the controversial idea that humans were made for war, evolutionarily speaking. A January 2015study indicates that societies dont actually benefit from head-to-head action, though other forms of violence do pay off.

Harvard evolutionary biologists Luke Glowaki and Richard Wrangham studied the Nyangatom people of East Africa. The group are polygamous shepherds who raise small livestock and can have multiple wives. At times, the Nyangatom go to war with other groups. But there is a another pervasive and nearly constant form of violence in the group. Young riders make raids on nearby camps with the goal of stealing cattle. Glowaki and Wrangham asked if either or both of these types of violence was beneficial to the men who engaged in them. They measured by counting the the number of wives and kids they had.

This study is one of many that has heightened thedebate over how muchwar has had an impact on a warriors evolutionary success. At least in this society,sneaking around after dark and stealing cows may have beenmore consequential. Robert Sapolosky at the Wall Street Journal explained:

By contrast, lots of battle raidingopen-field, daytime combat with hundreds of participantsdid not serve as a predictor of elevated reproductive success, probably because such fighting carried a nontrivial chance of winding up dead. In other words, in this society, being a warrior on steroids did not predict reproductive success; being a low-down sneaky varmint of a cattle rustler did.

But researchers only discovered this by looking at the elders in the community. Stealthy animal raiding did lead to better outcomes but decades later. In Nyangatom culture, most of the stolen livestock goes to fathers and other paternal relatives rather than being kept by the young men who stole them. The male heads of families made marriage decisions for their younger relatives. So, while it this kind of violence makes a difference, the payoff is quite delayed. The researchers speculated the cattle-rustling effect would be stronger in a group where the raiders got to keep the livestock they stole and incentives were strengthened.

Other studies also point to the idea that inter-group warfare might not be beneficial, but intra-group violence is. Chimpanzee tribes, for example dont often go to war with other tribes. Instead the most common types of violence involve a group of males ganging up on one individual male. This often happens when conditions are crowded or there were increased numbers of males in the tribe. And the researchers found that chimps participation in violence happened outside of the spheres of human influence, meaning violence was not a behavior the chimpanzees learned from us.

But other evidence suggests that humans likely didnt participate in war as we know it until relatively recently. A 2013 survey of killings in 21 groups (foragers rather than shepherds) found that group warfare was rare compared to homicide. John Horgan categorized the evidence at Scientific American:

Some other points of interest: 96 percent of the killers were male. No surprise there. But some readers may be surprised that only two out of 148 killings stemmed from a fight over resources, such as a hunting ground, water hole or fruit tree. Nine episodes of lethal aggression involved husbands killing wives; three involved execution of an individual in a group by other members of the group; seven involved execution of outsiders, such as colonizers or missionaries. Most of the killings stemmed from what Fry and Soderberg categorize as miscellaneous personal disputes, involving jealousy, theft, insults and so on. The most common specific cause of deadly violenceinvolving either single or multiple perpetratorswas revenge for a previous attack.So it maybe that a proclivity for violence and an innate sense of revenge that perpetuates war, rather than war itself.

Another factor to consider is that while our common ancestors lived in groups like these thousands of years ago, almost no one does anymore. In fact, finding these undisturbed cultures is hard to do. Having more cows doesnt carry the same appeal it once did. Its unlikely stealing your neighbors TV for your uncle will fetch you a better bride. Some scientists worry that if we accept the idea that violence was a beneficial tool for our ancestors, it somehow overturns the societal progress that has moved us beyond the rape and pillage culture to something still imperfect, but largely more peaceful.

This is the biggest struggle with the deep roots theory of human violence. Just because something garnered an advantage thousands of years ago doesnt make it okay today. Harvard psychologist Steven Pinker, who has written a book on human violence, said in the Boston Globe:

romantics worry that if violence is a Darwinian adaptation, that must mean that it is good, or that its futile to work for peace, because humans have an innate thirst for blood that has to be periodically slaked. Needless to say, I think all this is profoundly wrongheaded.

Meredith Knight is a contributor to the human genetics section for Genetic Literacy Project and a freelance science and health writer in Austin, Texas. Follow her @meremereknight.

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Evolution and war: The ‘deep roots’ theory of human violence – Genetic Literacy Project

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8 Health Issues You Had No Idea Transgender and Gender-Diverse People Are Dealing With – Women’s Health

Women’s Health
8 Health Issues You Had No Idea Transgender and Gender-Diverse People Are Dealing With
Women’s Health
Physician assistant Diane Bruessow, who works for the private medical office Healthy Transitions, says that doctors who don't work with transitions don't necessarily know the details of working with hormone therapy. That's why Alex Keuroghlian, M.D., M

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Local doctor wants to save kids from hot cars – The Northwest Florida Daily News

JENNIE McKEON @JennieMnwfdn

MARY ESTHER The tragic death of a 7-week-old child left in a van earlier this week is a reminder of how dangerous Florida heat can be.

Okaloosa County sheriff’s deputies were called to a home in Mary Esther about 9:30 p.m. Sunday, where they found infant dead inside a van. A family member was not aware that the child’s mother had placed the baby in the rear-facing car seat inside the van after church about 12:45 p.m.

Investigators are still waiting for results of the autopsy from the Medical Examiner’s Office, sheriff’s office spokeswoman Michele Nicholson said.

“This is a tragic event that we are continuing to investigate, and will provide more information when the evidence, facts and interviews are concluded and reviewed,” she added in an email statement.

According to the website, an average of 37 children in the United States die from heat-related deaths after being left inside vehicles. Since 1990, about 800 children have died of vehicular heat strokes.

Niceville physician Wayne Justice has made it a personal mission to help save families from experiencing those tragedies after reading about one in the summer of 2013.

“I know how busy life can be. I have two kids who were 7 and 4 at the time,” Justice said. “I started to think … when doctors put patients on ventilators we have sensors to measure carbon dioxide. I’d love to see some kind of device in cars that monitors temperature and carbon dioxide.”

Justice enlisted friends Dr. Kit Kuss and engineer Mark Denney to come up with a prototype. In January 2016 they received a patent on the XTRAS (Extreme Temperature Rescue Alarm System). He sees the device being installed in the dome light or TV monitors in cars that could sense motion, CO2 levels and temperature.

“The device would alarm parents by phone or call 911,” he said. “Maybe even crank up the car and turn the AC on. It could also save pets.”

As a father and a doctor, Justice said he would like to see his prototype developed into a life-saving device. He’s hoping to work with, (KAC), which works to raise awareness about the dangers inherent to children in or around motor vehicles, and the National Highway Traffic Safety Administration to do more testing and get the finished device in cars.

“I see it as a baby shower gift,” he said. “You give monitors and the XTRAS.”

According to KAC, in more than half of the cases in which a child is left in a hot car, the person responsible for the child left them unknowingly. Neuroscientists say brains can go on “auto pilot” and go through the day’s schedule without noticing changes in the routine.

Justice also points out children can get accidentally locked in cars with the child safety lock features.

“It’s horrible and devastating,” he said. “I would love to see this implemented in cars and save lives.”

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Local doctor wants to save kids from hot cars – The Northwest Florida Daily News

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Concussions tied to menstrual problems in young women – WHTC

Thursday, July 06, 2017 3:51 p.m. EDT

By Andrew M. Seaman

(Reuters Health) – Young women who suffer a concussion may be at increased risk of menstrual irregularities, at least for a few months, suggests a new U.S. study.

Researchers found that young women were nearly six times more likely to have irregular menstrual cycles after a concussion, compared to young women who were treated for non-head-related injuries.

After a concussion, women should talk to their healthcare providers about the increased risk, said senior author Anthony Kontos, of the University of Pittsburgh Medical Center Sports Medicine Concussion Program. It’s important, he added, “for care providers to be concerned about menstrual patterns and encouraging women to track that after their injury.”

Irregular menstrual cycles may disrupt the body’s hormones and lead to delayed body development in young women, Kontos told Reuters Health. Hormone disruption can also lead to poor bone health.

Concussions result from a hit or blow to the head that causes the brain to move back and forth or twist inside a person’s skull, according to the Centers for Disease Control and Prevention.

A study last year by the Seattle Sports Concussion Research Collaborative estimated that up to 1.9 million children in the U.S. experience a sports-related concussion each year. Girls are also known to have a more difficult concussion recovery than buys, Kontos and his colleagues write in JAMA Pediatrics.

Hormone disorders are known to occur after traumatic brain injuries, they add. Some research has suggested menstrual disorders are more common after those types of injuries, too.

For the new study, the researchers recruited 68 girls and women, ages 12 to 21, who were recovering from concussions. The participants received a text message every Sunday night for about four months linking to a survey that asked about their menstrual cycle. They were asked about bleeding, new injuries, possibly pregnancies and birth control.

Sixty-one young women with non-head-related injuries were also surveyed every week.

About 24 percent of concussion patients had at least two abnormal menstrual cycles during follow-up, compared to 5 percent of patients with other types of injuries.

Kontos said concussions might increase the risk of irregular menstrual cycles by disrupting the hypothalamic-pituitary-ovarian axis, a group of hormone-emitting glands that often act in concert.

Dr. Jeffrey Bazarian, an emergency physician and brain injury expert at the University of Rochester Medical Center in New York, told Reuters Health a concussion could interfere with the pituitary gland in the center of the brain.

“Its possible that this also happens to males and the question is how does it effect them,” said Bazarian, who was not involved in the new study.

The researchers can’t yet explain their findings, however. Nor can the study prove concussions actually cause abnormal menstruation.

Kontos also said it’s unclear whether the increased risk of abnormal menstrual patterns lasts beyond four months.

“We dont know beyond that,” he said. “Its one of the studies wed like to do.”

SOURCE: JAMA Pediatrics, online July 3, 2017.

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WFAN voice breaks through media’s wall of Tiger protection – New York Post

Either the 22-year news embargo has been lifted or the Broadcasting Thought Police havent yet arrested WFANs Richard Neer for media malfeasance in the first degree. What he said on the air Monday morning, after all, previously was an act of sedition.

Neer cast some practical doubt on a fellow who for years was presented to Americans not only as the greatest in his sport (which was true for a while), but also as the worlds greatest son, husband, father and human: Tiger Woods. Yet Neers still at large, not yet in custody.

Neer noted that Woods, that morning, had tweeted he was out of drug rehab, although not quite. Drug and rehabilitation didnt make the cut. The message read: I recently completed an out of state private intensive program. I will continue to tackle this going forward with my doctors, family and friends.

Whatever this is.

Neer said this strikes him as one of those dubious two-week miracle cures, thus hes not convinced Woods is properly dealing with an addiction for which he might need intensive treatment.

Neer might have added that this tweet, in the month following Woods 3 a.m., lost-in-space, DUI arrest, carried the stink of a Team Tiger public relations ploy, as it was sent in the midst of the July Fourth holiday. Public relations folks often have high-profile clients choose to release statements that dont reflect particularly well on them at times that make the least possible news.

But what, other than Woods ability to shoot lower than everyone else, has not been accompanied by the doubtful, followed by media-excused absences of common sense?

He tweeted that after an intensive program he was working with my doctors.

In 2009, with the finest doctors in this country to select from, Woods and company chose Canadian Anthony Galea, who was flown to Florida a reported 14 times to treat Woods knee.

Two years later, Galea pled guilty to smuggling illegal drugs and human growth hormone into the United States.

Woods and Galea claimed the doctor administered no illegal treatments. So then why would Woods fly him in from Toronto? He couldnt have been similarly, legally treated by a U.S.-accredited physician?

But to even hint that this made less sense than it did nonsense went widely ignored. Woods was entitled to escape such logical doubt while his career has been laced with the stench of fraud.

His closely followed, far-flung and expensive amateur career surely was financed by his father after the monolithic rep firm, IMG, hired Earl Woods as a talent scout, as if Dad scouted other talent. Tiger then belonged to IMG the instant he turned pro, thus Team Tiger thumbed its nose at USGA rules prohibiting amateurs from having agents.

His come-out, attitude-enriched Nike commercial had Woods, who previously had insisted that he didnt want to be known for his race, saying, There are still courses in the United States that I am not allowed to play because of the color of my skin.

But as the most celebrated amateur since Bobby Jones, no such thing, as a Nike rep later admitted, was true. Woods, however, often played and practiced at a course in Houston that excluded women.

In 1997, when Woods skipped a PGA event in the U.S. to play a tournament in Thailand, the media reported Team Tigers claim: he was playing in Thailand to honor his mothers heritage. What a son!

That $500,000 appearance fee to play in Thailand? Shhh. Dont ruin it! After all, that weeks PGA Tour winner won only $270,000.

But Woods has always been guarded and enabled by fractional truths, if not lies, blissfully indulged or advanced by media.

Of course, no one rolled over and played dead for Woods more often than TV, its golf voices allowing him to be the only player entitled to act like a foul-mouthed spoiled brat, even into his late 30s, without a discouraging word about what was impossible for viewers to not hear or see.

During the 2010 Ryder Cup, as Woods and Steve Stricker were losing their second team match, NBCs Johnny Miller identified the problem: Stricker. It was his fault.

Yet it was clear to even miniature golfers that Stricker was playing better than Woods.

Into NBCs booth entered Colin Montgomerie, guest commentator. Apparently unfamiliar with the rules of Tiger Woods American TV coverage, the Scotsman volunteered that Woods was playing poorly.

He has hardly hit a fairway or green in regulation, Montgomerie said.

OMG! Awkward silence. Montgomerie had no idea that no matter how conspicuous the truth, youre not supposed to say that, not about Tiger Woods.

And so despite the rank pandering and Woods continuing free fall, the media have done Woods no favors.

FOX Sports boss and former ESPN shot-caller Jamie Horowitz, this week was fired for alleged sexual misconduct. Employees must attend seminars to deter sexual harassment, yet its their bosses who are fired for it.

Its odd, too, how defense lawyers make public declarations of hard facts without possibly knowing them. Horowitzs attorney, Patricia Glaser, immediately knew that FOX, not Horowitz, was the guilty party:

The way Jamie has been treated by FOX is appalling, she said. At no point in his tenure was there any mention from his superiors or human resources of any misconduct or an inability to adhere to professional conduct.

Does that mean FOX owed Horowitz a warning to cut it out?

Glaser continued: Jamie was hired by FOX to do a job that until today he has performed in an exemplary fashion.

How does she know? Did she shadow Horowitz at work?

Finally, she said, Any slanderous accusations to the contrary will be vigorously defended.

So how can she be sure shes not slandering those who fired him?

Many high-powered attorneys are like Mike Francesa. They can publicly claim anything about anything and anyone as fact without knowing if its true, never to be held accountable.

Game 5 of the 1956 World Series, and we can hear John Sterling: Casey Stengel has seen enough, Suzyn. He has brought in eighth-inning man Dellin Betances. That closes the book on Don Larsen: Seven innings, no runs, no hits, no walks.

FOXs commercials for Tuesdays All-Star Game are off by at least a half-hour. The game will not begin at 7:30 p.m., but sometime after 8 p.m.

Damien Wilson, the Cowboys linebacker who was arrested Tuesday on two counts of aggravated assault with a deadly weapon a car and a rifle is a University of Minnesota man.

After Joey Chestnut again won the 2017 Nathans Hot Dog Eating competition on July 4, reader Mark Woloshyn was disappointed that ESPN didnt post Chestnuts postgame exit velocity.

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Cryonics Failure – TV Tropes

…And this was the survivor.

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Anime & Manga

Comic Books

Films Live-Action

Riplay: He figured he could get an alien back through quarantine if one of us was… impregnated, of whatever you call it… then frozen for the trip home. Nobody would know about the embryos we were carrying; me and Newt. Hicks: No, wait a minute, we’d all know. Ripley: Yes, the only way he’d be able to do it is if he sabotaged certain freezers on the way home, namely yours. Then he could jettison the bodies and make up any story he liked. Hudson: You’re dead… you’re dog meat, pal!


Live-Action TV


Tabletop Games

Video Games

Wheatley: The reserve power ran out, so of course the whole Relaxation Center stops waking up the bloody test subjects. […] And of course, nobody tells me anything. Nooooooo, why should they tell me anything? […] And who’s fault do you think it’s going to be when the management comes down here and finds ten thousand flippin’ vegetables. […] We should get our stories straight. If anyone asks and no-one’s going to ask, don’t worry but if anyone asks, tell them as far as you know, the last time you checked, everyone looked pretty much alive. Alright? Not dead.

Web Comics

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Tumor gene testing urged to tell if drug targets your cancer – ABC News

Colon cancer. Uterine cancer. Pancreatic cancer. Whatever the tumor, the more gene mutations lurking inside, the better chance your immune system has to fight back.

That’s the premise behind the recent approval of a landmark drug, the first cancer therapy ever cleared based on a tumor’s genetics instead of the body part it struck first. Now thousands of patients with worsening cancer despite standard treatment can try this immunotherapy as long as genetic testing of the tumor shows they’re a candidate.

“It’s like having a lottery ticket,” said Johns Hopkins oncologist Dr. Dung Le, who helped prove the new use for the immunotherapy Keytruda. “We’ve got to figure out how to find these patients, because it’s such a great opportunity for them.”

Today, doctors diagnose tumors by where they originate breast cancer in the breast, colon cancer in the colon and use therapies specifically tested for that organ. In contrast, the Food and Drug Administration labeled Keytruda the first “tissue-agnostic” treatment, for adults and children.

The reason: Seemingly unrelated cancers occasionally carry a common genetic flaw called a mismatch repair defect. Despite small studies, FDA found the evidence convincing that for a subset of patients, that flaw can make solid tumors susceptible to immunotherapy doctors otherwise wouldn’t have tried.

“We thought these would be the hardest tumors to treat. But it’s like an Achilles heel,” said Hopkins cancer geneticist Bert Vogelstein.

And last month FDA Commissioner Scott Gottlieb told a Senate subcommittee his agency will simplify drug development for diseases that “all have a similar genetic fingerprint even if they have a slightly different clinical expression.”

It’s too early to know if what’s being dubbed precision immunotherapy will have lasting benefits, but here’s a look at the science.


Hopkins estimates about 4 percent of cancers are mismatch repair-deficient, potentially adding up to 60,000 patients a year. Widely available tests that cost $300 to $600 can tell who’s eligible. The FDA said the flaw is more common in colon, endometrial and gastrointestinal cancers but occasionally occurs in a list of others.

“Say, ‘have I been tested for this?'” is Le’s advice for patients.


Most tumors bear 50 or so mutations in various genes, Vogelstein said. Melanomas and lung cancers, spurred by sunlight and tobacco smoke, may have twice as many. But tumors with a mismatch repair defect can harbor 1,500 mutations.

Why? When DNA copies itself, sometimes the strands pair up wrong to leave a typo a mismatch. Normally the body spell checks and repairs those typos. Without that proofreading, mutations build up, not necessarily the kind that trigger cancer but bystanders in a growing tumor.


Your immune system could be a potent cancer fighter except that too often, tumors shield themselves. Merck’s Keytruda and other so-called checkpoint inhibitors can block one of those shields, allowing immune cells to recognize a tumor as a foreign invader and attack. Until now, those immunotherapies were approved only for a few select cancers Keytruda hit the market for melanoma in 2014 and they work incredibly well for some patients but fail in many others. Learning who’s a good candidate is critical for drugs that can cost $150,000 a year and sometimes cause serious side effects.

In 2012, Hopkins doctors testing various immunotherapies found the approach failed in all but one of 20 colon cancer patients. When perplexed oncologists told Vogelstein, “a light bulb went off.”

Sure enough, the one patient who fared well had a mismatch repair defect and a “mind-boggling” number of tumor mutations. The more mutations, the greater the chance that at least one produces a foreign-looking protein that is a beacon for immune cells, Vogelstein explained.

It was time to see if other kinds of cancer might respond, too.


The strongest study, published in the journal Science, tested 86 such patients with a dozen different cancers, including some who had entered hospice. Half had their tumors at least shrink significantly, and 18 saw their cancer become undetectable.

It’s not clear why the other half didn’t respond. Researchers found a hint, in three patients, that new mutations might form that could resist treatment.

But after two years of Keytruda infusions, 11 of the “complete responders” have stopped the drug and remain cancer-free for a median of eight months and counting.

Catherine “Katie” Rosenbaum, 67, is one of those successes. The retired teacher had her uterus removed when endometrial cancer first struck, but five years later tumors returned, scattered through her pelvis and colon. She tried treatment after treatment until in 2014, her doctor urged the Hopkins study.

Rosenbaum took a train from Richmond, Virginia, to Baltimore for infusions every two weeks and then, after some fatigue and diarrhea side effects, once a month. Then the side effects eased and her tumors started disappearing. A year into the study she was well enough to swim a mile for a Swim Across America cancer fundraiser.

“Nothing else had worked, so I guess we could say it was a last hope,” said Rosenbaum, who now wants other patients to know about the option.

This Associated Press series was produced in partnership with the Howard Hughes Medical Institute’s Department of Science Education. The AP is solely responsible for all content.

This story is part of Genetic Frontiers, AP’s ongoing exploration of the rapidly growing understanding of DNA and new attempts to manipulate it.

Continued here:
Tumor gene testing urged to tell if drug targets your cancer – ABC News

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Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Center’s … – City Pulse

Field notes from a revolution in cancer treatment

Any cancer center, no matter how cutting edge its technology or cheerful its design, is a place where people get bad news.

But theres more good news about cancer treatment than most people think, and the game is changing month by month.

Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Centers director, James Herman, hopes will replace what he calls MOAB (Mother of All Bombs) forms of treatment such as radiation and chemotherapy.

Oncologist Tim McKenna, director of Sparrows breast clinic, has been in practice over 35 years. He said he more optimistic now than he has ever been.

I can see where maybe breast cancer surgeons will be standing on street corners with cardboard signs, McKenna said.

Already, many of McKennas patients never get a mastectomy or lumpectomy. Treatment that combines chemotherapy with monoclonal antibodies that target a patients particular cancer can get rid of a tumor without surgery in many cases.

McKenna said they take a couple of core samples and say, You know what? I guess there isnt any cancer left. Youre done. I predict that in 15 years, 20 years, that will be 90 percent of the cure.

Corrie Bourdon called it a brave new world, amazing and life-saving. As the cancer genetic counselor, a position created a year ago especially for her, Bourdon is Sparrows newest staff member and a herald of that new world.

If you remember the 90s sci-fi movie, Gattaca, its becoming real life, Bourdon said.

Now, when cancer is detected, on cologists ask a whole new set of questions, using a strange new vocabulary. McKenna rattled off a few of the big ones: Is the cancer estrogen receptor positive? Does it overexpress her2/neu? Whats the Oncotype score? Whats the MammaPrint score?

To sample just one spoonful of that jargon stew, MammaPrint is a 70-gene map of the cancer itself, a genetic analysis that helps doctors decide if systemic treatment is warranted, even though they cant prove the cancer might be somewhere else.

It allows us to predict recurrence down the road and take steps now, McKenna said.

Like the genetic engineers of Gattaca, Bourdon tests families for genes that predispose them to cancer. (People sometimes ask Bourdon if she designs babies. She tells them she doesnt.)

If a person carries the mutation, the next step is extra screening or even preventative surgery to keep them from getting the cancer.

The advances are exponentially increasing, she said. Cancer treatment and genetics are converging very, very quickly, if they are not already converged.

Until recently, as Sparrow oncologist Joseph Meunier explained it, many chemotherapy drugs have been designed to treat a particular type of cancer, based on the part of the body affected, such as lung or breast cancer.

But recently, Meunier and his team have been successful doing things they never thought they would do, like treating ovarian cancer with skin cancer drugs.

They wouldnt have thought of trying such a thing five years ago, because no body knew the two forms of cancer had the same genetic mutation in common.

Just the leaps for ward in the last 18 months its been absolutely unbelievable, Meunier said.

A month ago, the FDA approved a chemotherapy type drug for the treatment of a genetic mutation, regardless of the organ of origin.

Thats the first time thats ever happened, Meunier said. I cant even imagine, in the next 10 or 20 years, the way we look at therapy altogether is going to be entirely different.

Genetically tailored treatment is not a silver bullet, though. Bourdon said the environment still plays a huge role in how people get cancer.

Exposures to chemicals, pesticides, or they worked in a factory, Bourdon said. Ive heard a lot about the Dow Chemical Plant in Michigan. Or if someone was in the military, who knows what they were exposed to? But cancers have genes of their own that can be unlocked and, perhaps, manipulated to their distinct disadvantage.

I would not be surprised at all if we actually have a cure for cancer in the next 10, 20 years, or weve at least made such advancements that you just go to your doctor and take a pill to fix your gene and youre cured, Bourdon said.

Gordan Srkalovic, oncologist and director of Sparrows clinical trials program, took a more circumspect view. Srkalovic has been an oncologist for 18 years and did basic oncology research before that. He has been at Sparrow 14 years.

Are we going to conquer cancer? is a loaded question, he said. I dont think we will be able to cure every patient with cancer, at least not in my lifetime.

Its more likely, Srkalovic said, that cancer will be cut down to size, from a deadly, progressive disease to a chronic one that can be treated, comparable to hypertension or high blood pressure, and thats already happening.

The goal at the present is to reduce the burden of disease to the point the patient could have cancer cells, but the cancer is controlled, he said.

Its a more modest prognosis, but still a dramatic leap from cancer outcomes a generation ago.

When I started, you took a Magic Marker and you put an X over where you thought the cancer was, Herman said. Then Id pretend Id know what was going on with the treatment.

The cure rate for cancer has gone from 30 percent to 70 percent since Herman entered the field over 35 years ago.

That means the cancer is gone and they die of something else, he said. You dont hear about that 70 percent. They carry on and live their life. Its a revolution.

So McKenna may end up on a street corner with his cardboard sign after all. It seems perverse to dream of tearing down a building thats brand new, but the Herbert-Herman Cancer Center is a special case.

We love helping patients and curing them, but it would be amazing if we were all out of a job, Bourdon said.

I hope it is the last cancer center, Meunier said. I hope we dont have to build a new one again.

Will we be able to get rid of buildings like this? I hope so, Herman said. Herman is entitled to say that, with his name is on the place and all.

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Cancer treatment is swiftly moving toward individualized molecular and genetic tools that Sparrow Cancer Center’s … – City Pulse

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Avera Medical Minute AMcK: Firefighter with recurrent Hodgkin Lymphoma will need bone marrow transplant in future … – KSFY

Firefighter Dustin Luebke puts his life on the line everyday protecting and serving the community. Never did he think his life would be threatened in a different way.

So now in 2017, Im going through it for the third time. So now its again recurring Hodgkins, said Luebke.

It all started in March of 2014. After 12 rounds of chemotherapy and six months in remission, it came back. He needed a stem cell transplant and was able to use his own stem cells.

Shortly after completing a year of chemotherapy after the transplant, it came back for the third time.

Its tough to swallow the first time and the second time. And then with the third time, its frustrating, said Luebke.

This father to three little girls will eventually need a bone marrow transplant.

But with this time, right now Im just doing an immunotherapy and were hoping that brings it back down to a cellular level and I can be on that for as long as until it stops working. So then it would require a stem cell transplant with a donor this time, said Luebke.

Thats where you and I can do our part and become part of the bone marrow registry and potentially be the match and save a life like Luebke’s.

You fill out a short questionnaire. It talks about your health history and some personal questions, like how willing would you be to become a donor and then the swabbing process is really simple. We just swab each of your cheeks for a couple of minutes and then youre done, said Jalisa Spittler, transplant coordinator.

Spittler says 70% of patients who need a donor dont have a match in their family making the bone marrow registry their only hope.

We do have a lot of patients here that are waiting for matches that we just cant find for them. So its really helpful if we can create a diverse list with tons of people from here in South Dakota, said Spittler.

I got three little girls to raise and beautiful wife at home so I gotta stick around for a few more years, said Luebke.

Its pretty tough to realize that now youre relying on someone else where before it was all the medicine and just chemotherapy and now youre relying on somebody else with healthy stem cells to keep you going, said Luebke.

Sometimes it takes months to find a match.

Its taxing on them because they have to take more chemotherapy the longer it takes us to find a match for them. And the more chemotherapy they take, the harder it is on their body to get through the transplant. So its really important that we have a huge number of people to look at first, said Spittler.

Theres many ways that you can help out with people lives. And whether its in a fire, on a medical call and even helping somebody with life itself and furthering their life and making it better so they dont have to do chemotherapy anymore, said Luebke.

Luebke is a hero to this family and the community.

The first step to being someones cure is to join Be the Match Registry.

This Tuesday at the Oyate Community Center in Sioux Falls, there will be a bone marrow registry drive from noon to 7PM. It is put on by Avera, the city of Sioux Falls, and Be the Match. Registering takes less than 15 minutes.

For more information, just call 877-AT-AVERA.

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Avera Medical Minute AMcK: Firefighter with recurrent Hodgkin Lymphoma will need bone marrow transplant in future … – KSFY

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How to Grow a Human Hand – Edgy Labs (blog)

Heres an interesting project: somebody has been growing a human hand in a lab and displaying it for the world to see.

We live in a time where the meaning of impossible needs to be updated.

As we make new discoveries, new possibilities open up to us. And if you want a good example of that, just look at how advanced prosthetics have become in the last decade. Soon, you might be able to grow a humanhand like a Chia pet.

Or take a look at Dr. Sergio Canavero, who plans to perform a full-on head transplant later this year.

But that example may be a little extreme.

See, theres something miraculous about giving something vital like a limb or an organ to someone to needs it. In the past, it couldnt be done, but with the future in sight, were slowly changing our minds on that.

So, the future can be full of hope. And when one of us loses a hand, possibly due to someone we have only just learned is our father, we wont have to worry too hard.

Ok, heres a better example of the kind of future Im talking about.

Artist Amy Karle has an interesting new project that combines 3D printing with stem cell research. The idea is to grow a functional human hand, and if it works she wants to make the design free and open source.

And trust me, that will be one weird-yet-cool day for the people who frequent

Karle may be an artist, but shes no amateur. She works with nonprofit groups that design 3D printed prosthetic arms, and she has help from a team of scientists.

The project is called Regenerative Reliquary, and it is being displayed in San Franciscos Pier 9 space while it grows. Or, to be more accurate, while part of it grows.

Karle has designed a 3D printed trellis in CAD which was printed using a cellular growth medium called pegda. Over several weeks, the pegda trellis was grown in a bioreactor on display. The next step will be to grow a cell line on the trellis, something Karle is culturing stem cells for now.

The team is using stem cells extracted from bone marrow, and with any luck, the idea will bear fruit and be released to the public.

I like the sound of an open source prosthetic design, especially considering how much more of an option 3D printing is these days. Lose a limb, and you may one day be able to make a replacement within the comfort of your own garage.

For now, though, were still waiting to see if Karles project will work. According to the artist, Well see if the cells have a mind of their own. I like to step back and let the artwork take over.

Now you know how Karle plans to grow a human hand. Lets rewind a bit, back to where I mentioned Dr. Canavero and his upcoming head transplant.

As crazy as it sounds, if Canaveros plan works science will have taken a big step toward manipulating the central nervous system. And thats really, really important. If scientists can connect a head to a spine, and they can grow a limb in a tank, it follows that they may one day be able to attach that limb as a replacement.

And that doesnt just apply to limbs, either. Scientists have been looking into growing replacement organs for years, just look at this article from way back in 2014.

We may be on the verge of the ability to reproduce and replace parts of the human body. And at this rate, who knows what kind of effect this can have on the survivability rate of human beings in the future.

Im sure well never resurrect the dead or anything, but I think the fictional Dr. Frankenstein would be proud.

Creating replacement body parts is something that has been a mainstay of science fiction, and it isnt crazy any longer to think that it may become a reality. So, like I said earlier, we may need to push the goal posts back on the word impossible.

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How to Grow a Human Hand – Edgy Labs (blog)

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CRISPR gene editing technique is probably safe, study confirms … – New Scientist

How many mutations?

By Michael Le Page

As you were. In May, a study claimed that the revolutionary CRISPR gene editing technique can cause thousands of unwanted and potentially dangerous mutations. The authors called for regulators to reassess the safety of the technique.

But doubts were raised about these claims from the very beginning, not least because it was a tiny study involving just three mice. Some critics have called for the paper to be withdrawn. Now a paper posted online on 5 July has proposed a simple and more plausible explanation for the controversial results. If its right, the authors of the original study were wrong.

We strongly encourage the authors to restate the title and conclusions of their originalpaper or provide properly controlled experiments that can adequately support their claims, write the team behind the new study. Not doing so does a disservice to the field and leaves the misleading impression that the strong statements and recommendations found in their paper are adequately supported by the data presented.

The aim of gene editing is to make a precise change in a DNA sequence while leaving the rest of the genome untouched. Gene editing can be used to introduce desirable changes into plants and animals (and perhaps people too one day), and to treat a range of disorders in people.

Gene editing has been around for decades but it remained extremely difficult and expensive until the revolutionary CRISPR technique was discovered in 2013. CRISPR is so cheap and easy that it is already widely used by researchers around the world, and nearly 20 clinical trials in people are already getting underway. The rapid pace of development has been unprecedented.

But have doctors been rushing to use it too soon? When Stephen Tsang of Columbia University Medical Center and colleagues compared the entire genomes of two CRISPR-edited mice with a third one, they found thousands of shared mutations in the two edited mice.

Tsang and co attributed to these mutations to CRISPR, and issued a widely-covered press release that suggested CRISPR is far riskier than dozens of other studies had suggested.

It has always been clear that CRISPR, like other gene-editing techniques, can sometimes make alterations other than the intended one. These off-target changes are most likely to occur when the CRISPR machinery binds to DNA sequences very similar to the target one.

For this reason, studies on the safety of CRISPR have usually looked to see if any sequences resembling the target sequences have been altered. Most have found few unwanted changes, suggesting CRISPR is safe. And some teams have already tweaked the CRISPR machinery to reduce these off-targets effects even more.

Tsang and colleagues claimed that by sequencing the entire genome, they found off-target mutations missed by studies that only looked at sites resembling the target sequence. But there is a much simpler explanation, says the latest study: the two CRISPR-edited mice just happened to be more closely related and thus shared more mutations.

Tsang and colleagues assumed the three mice they studied were essentially genetically identical because their parents were very closely related, but the way the colony of mice was maintained means this was probably not the case, the team, which includes Luca Pinello of Harvard University, say.

This explanation makes sense for another reason, too. The shared mutations in the edited mice were nowhere near DNA sequences resembling the one were targeted for editing, Pinello and colleagues point out, so its far from clear why CRISPR would cause mutations in these same sites in two different mice.

I agree the two mice are indeed more likely to be closely related, says geneticist Gaetan Burgio of the Australian National University, one of the many critics of the original paper. He says its publication in a prominent journal was a failure of peer review.

Journal reference: bioRxiv, DOI: 10.1101/159707

Read more: CRISPR causes many unwanted mutations, small study suggests

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CRISPR gene editing technique is probably safe, study confirms … – New Scientist

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Science to Live By: CRISPR-Cas Corn – The Crozet Gazette

CRIPSR-Cas is one tool that could help keep pace with the growing demand for more sustainable agricultural solutions.

DuPont Pioneer

When Carmen and I were young, we made our home at the foot of the Sandia Mountains east of Albuquerque. Back then, for a weekend outing on a pleasant summers day, we would avoid Interstate 25 and travel the Turquoise Trail National Scenic Byway, the picturesque backroad that links Albuquerque with Santa Fe through the high country. The Byway is named for the semi-precious, blue-green mineral deposits of hydrated copper and aluminum phosphatesought after by Native Americans for more than a millenniumwhich are found near the northern stretches of the road. Once bustling mining towns, scattered along the way like nuggets of the wild west, may also be discovered and explored; ghost towns such as Golden and Madrid (pronounced MAD-rid, not Ma-DRID).

During one of these trips, we stopped at the Golden General Merchandise Store and struck up a conversation with the proprietors, Vera and Bill Henderson. We learned that in 1962, Bill and Vera purchased the store from her parents. Together they turned the failing store into a thriving arts and crafts trading post featuring Native American jewelry, rugs, Kachina dolls, and pottery for sale.

The Hendersons (both of these dear friends have passed away) were true and devoted connoisseurs and patrons of local and regional artisans. Vera especially wanted customers to share her passion in these handicrafts. If a potential patron showed lackadaisical interest in the artistic qualities of a piece or the artist who made it, she would send them on their way, telling them to take their business to Santa Fe!

I admired Veras spunk and forthrightness. She cared deeply, and she stood up for what she believed. She inspired me to learn the stories told about everyday Pueblo Indian life by silversmiths such as the Kewa Pueblo artist Vidal Aragon.

For example, a silver bracelet we purchased depicted a Pueblo village around which grew stalks of corn. As a kid growing up in the D.C. suburbs, about all I knew of corn was corn flakes. The Hendersons passion for Native American traditions encouraged me to deepen my cultural appreciation of food and agriculture.

The Keresan-speaking tribes of the American Southwest believed in a female corn goddess, whom they called Iyatiku. It is she who led the first people to the surface of the earth from Shipap, her underground realm. To provide for their sustenance and wellbeing, Iyatiku planted pieces of her heart in the fields surrounding their village. These tiny tokens of her body grew into lush fields of life-sustaining corn!

This worldviewthat seeds and plants are sacred gifts available to and shared by allis common among native peoples around the world. This ancient perspective stands in stark contrast to the modern view corporate ag-science offers us. To illustrate, I will use DuPont Pioneers CRISPR-Cas waxy corn as an example.

DuPont Pioneer has recently announced its intentions to commercialize waxy corn hybrids developed in the laboratory using a new and powerful gene editing technique called CRISPR-Cas: clustered regularly interspaced short palindromic repeats-CRISPR-associated system. (Thats not a typo. This two-part acronym incorporates its own acronym!)

Waxy corn produces a high amylopectin starch content, which is milled for a number of everyday consumer food and non-food uses including processed foods, adhesives and high-gloss paper. DuPont Pioneer created this hybrid using CRISPR-Cas advanced gene editing technology to program the plants molecular machinery to synthesize amylopectin starch in abnormally high levels.

According to DuPont Pioneers website and their September 2016 webinar, CRISPR-Cas is a more efficient and targeted plant breeding technology. In the past, genetic engineering of plants often has relied upon transgenic techniques, which modifies the host species by adding genetic material from different species (i.e., GMOs). CRISPR-Cas does not incorporate foreign DNA from other species. Its a continuation of what people have been doing since plants were first domesticatedselecting plants for their desired characteristics like higher yields, disease resistance, longer shelf life or better nutrition.

CRISPR-Cas gene editing technology is likened to word processing, by which scientist delete, edit, or search and replace specific portions of a plants genetic code. CRISPR-Cas uses molecular scissors to cut a specific section of DNA. After the DNA is cut, either a piece is removed and the loose ends are spliced back together eliminating an undesired trait; or a desired trait is inserted into the gap and the DNA is stitched together again.

DuPont Pioneer seeks to further the science and expand the adoption of CRISPR-Cas across all crops, including soybeans, rice, wheat, canola, sunflowers, fruits and vegetables. Agricultural products developed with CRISPR-Cas will be like the ones that we have been producing through conventional plant breeding for generations and will be subject to extensive testing prior to commercialization. As with every technology we apply, we hold ourselves accountable to our core values, to our customers and to consumers.

According to DuPont Pioneer, current Food and Drug Administration law will not require labelling of CRISPR-Cas waxy corn. Even under the newly enacted National Bioengineered Food Disclosure Law of 2016, their genetically edited waxy corn will not meet the definition of bioengineered as written in the law, and would therefore not require disclosure as a bioengineered food.

For much of human history, edible plants were cherished as gifts from the gods. Now, they are becoming high-tech, commercial products of industry. Once seeds were available to all. Now they are becoming proprietary, patented, intellectual property, licensed through end-user agreements.

Are these trends truly more sustainable agricultural solutions as industry claims they are? Are they empowering farmers? Or are corporate monopolies of engineered seeds leading to bondage and dependency for farmers who are getting trapped in debt to pay royalties in the words of Vandana Shiva, philosopher and eco-feminist.

On a personal level, I relish the smell of a freshly picked ear of corn. For me, summer would not be complete without a picnic lunch serving up hot corn-on-the-cob. I wonder, would my body and soul feel as nourished if I knew I was biting into kernels of CRISPR-Cas corn? If not, should I adapt my aesthetic sensibilities to these new agricultural realities by adopting the attitude CRISPR-Cas corn, and I dont care (sung to the antebellum minstrel tune Jimmy Crack Corn)?

J. Dirk Nies

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Science to Live By: CRISPR-Cas Corn – The Crozet Gazette

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CRISPR goes wild, and scientists debate its fidelity | Spectrum … – Spectrum

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The gene-editing tool CRISPR may cause thousands of unintended mutations, but critics say its way too soon to accuse it of infidelity1.

A two-page study, published 30 May in Nature Methods, put biologys hottest technique in the crosshairs, questioning its ability to rewrite DNA with the precision necessary for medicine. The papers findings quickly dominated social media conversations on biology. And the stocks of biotech companies with CRISPR-based projects dipped by as much as 15 percent.

But some researchers are loath to end their love affair with CRISPR. Reports of the methods infidelity, they say, are greatly exaggerated. One reason, they note, is that the study is small just two mice for CRISPR and a single control mouse.

I think its an important finding that we really need to follow up, but its really hard to judge why there are so many [mutations], says Guoping Feng, professor of brain and cognitive sciences at the Massachusetts Institute of Technology. He says another enzyme the team used may in fact have caused the errant mutations.

Two weeks after the papers publication, Nature Methods editors added a note to the paper, saying they are considering the criticism of the results and plan to respond soon.

CRISPR is a molecular scalpel that cuts DNA. It can home in on a specific spot on the molecule using a piece of RNA as a guide. The tool holds significant medical promise because it could help modify or fix genes that cause medical conditions.

In 2016, Alexander Bassuks team reported injecting mouse embryos with CRISPR fused to its usual protein partner, CAS9, which binds to DNA. The researchers targeted a gene called PDE6B that is involved in vision. The experiment was designed to correct a mutation that causes blindness in the mice2. It did.

For the new study, Bassuk and his collaborators looked for off-target effects of the treatment. They sequenced the whole genomes of the two mice and the control mouse. They compared the results from the edited mice against a database that includes genomes of 36 mouse strains.

CRISPR-CAS9 introduced more than 100 unintended mutations and more than 1,600 one-letter swaps in the code of DNA, the researchers found.

None of these changes had any obvious consequences. As far as we can tell, it hasnt affected the mice, says Bassuk, professor of pediatric neurology at the University of Iowa in Iowa City. But the researchers tested only the mices vision and do not know if the mutations affected the animals behavior or perception.

This was not the first time that CRISPR had caused accidental mutations, though previous reports found far fewer mutations3.

Its always been a concern for everyone in the field that this is not a completely clean method, says Anis Contractor, associate professor of physiology at Northwestern University in Chicago. Contractor was not involved in the research but uses CRISPR to make mouse models. This is a big red flag.

Contractor and others say the findings may prompt a change in best practices when using the method. Scientists may need to sequence the genomes of their models an expensive task to uncover any unexpected mutations.

Others, however, are downplaying the results.

I dont think this paper has any merit for CRISPR research, says George Church, professor of genetics at Harvard University. I think its a negative example that we can use as a cautionary tale. Church is co-founder of Editas Medicine, a biotechnology company that is using the technique to develop gene-editing therapies. The company lost 12 percent of its value the day the study was published. (Its stock has since gone up, surpassing its previous value.)

Church and the companys other executives wrote to Nature Methods with a laundry list of concerns about the paper. Their biggest beef, says Church: The studys control mouse likely wasnt genetically identical to the ones that had been edited with CRISPR, so its impossible to know whether the mutations resulted from the method.

Instead, Church argues, its possible that the mutations represent natural genetic variance between the animals. Church stops short of saying the paper should be retracted but calls it a rushed job. Another gene-editing company, Intellia Therapeutics, voiced similar complaints.

The team also used an unusual version of the editing system, says Feng, who is using CRISPR to create animal models of autism. He says the use of extra nickase, an enzyme that can cause breaks in a strand of DNA, could have caused the mutations.

I couldnt figure out what reason youd need to do it this way, he says.

Bassuk points out that the team did the editing work in 2015, early in CRISPRs use.

We used what was available at the time, Bassuk says. Its obviously not what people are using in 2017. He says he is not sure whether the editing system made a difference in the results.

In the past three months, researchers have debuted the first two mouse models of autism created using CRISPR. No one has yet published work on using CRISPR to correct genes in animal models of the condition.

In the short term, the findings will definitely temper the enthusiasm for CRISPR models, says J. Tiago Gonalves, assistant professor of neuroscience at Albert Einstein College of Medicine in New York, who was not involved in the research. But in the end, Im confident the problems will be solved and well figure out whats happening.

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CRISPR goes wild, and scientists debate its fidelity | Spectrum … – Spectrum

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‘Stem-cell tourism’ needs tighter controls, say medical experts – Reuters

LONDON Stem-cell tourism involving patients who travel to developing countries for treatment with unproven and potentially risky therapies should be more tightly regulated, international health experts said on Wednesday.

With hundreds of medical centers around the world claiming to be able to repair damaged tissue in conditions such as multiple sclerosis and Parkinson’s disease, tackling unscrupulous advertising of such procedures is crucial.

These therapies are advertised directly to patients with the promise of a cure, but there is often little or no evidence to show they will help, or that they will not cause harm, the 15 experts wrote in the journal Science Translational Medicine.

Some types of stem cell transplant mainly using blood and skin stem cells have been approved by regulators after full clinical trials found they could treat certain types of cancer and grow skin grafts for burns patients.

But many other potential therapies are only in the earliest stages of development and have not been approved by international regulators.

“Stem cell therapies hold a lot of promise, but we need rigorous clinical trials and regulatory processes to determine whether a proposed treatment is safe, effective and better than existing treatments,” said one of the 15, Sarah Chan of Britain’s University of Edinburgh.

The experts called for global action, led by the World Health Organization, to introduce controls on advertising and agree international standards for the manufacture and testing of cell and tissue-based therapies.

“The globalization of health markets and the specific tensions surrounding stem cell research and its applications

have made this a difficult challenge,” they wrote. “However, the stakes are too high not to take a united stance.”

(Reporting by Kate Kelland, editing by John Stonestreet)

LONDON, July 7 At least three people worldwide are infected with totally untreatable “superbug” strains of gonorrhoea which they are likely to be spreading to others through sex, the World Health Organization (WHO) said on Friday.

(Reuters Health) – Young women who suffer a concussion may be at increased risk of menstrual irregularities, at least for a few months, suggests a new U.S. study.

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High-tech beauty products –

High-tech beauty tools on the market are going futuristic to help you look your best.

Here are some cutting-edge product recommendations:

Typically, only between 1 percent and 10 percent of skin care topicals are absorbed into the skin, and the rest is wasted. The JeNu PLUS Ultrasonic Infuser emits 365,000 pulses of ultrasonic energy per second to push more skin care product into skin for maximum absorption; increasing absorption by up to 75x. Use with a proprietary MicroSphere Gel (sold separately) to maximize skin care product absorption. You can purchase the infuser at

Create flawless curls and waves at the push of a button with the CHI Spin n Curl. Hair is drawn into the curl chamber with a ceramic rotating barrel, and its timed to create perfect curls. Ceramic heat technology helps distribute heat evenly across the barrel surface to help seal the cuticle, reducing styling damage while locking in moisture. The digital temperature display offers easily adjustable temperature settings each hair texture, creating a customizable styling experience. Available for purchase at

Finally, shapewear for your face! The OMG! Is this Really Me? Instant Face Shaper is a potent gel utilizing natural clay-derived compounds to instantly make skin feel tightened and lifted. Also contains plant-derived stem cell extracts to fight free radicals and reduce the appearance of fine lines and wrinkles. You can purchase the product at

myCoolSlim is a natural way to reduce unwanted body fat by delivering a safe and effective cold temperature directly to stubborn areas of fat. Its specially designed based on science to freeze and naturally eliminate fat cells.Wear it for 30 minutes a day no more than that and watch the fat cells shrink away! It’s the #1 at home cold contouring solution and a much cheaper alternative to expensive plastic surgery. Available to buy at

HiMirror is the worlds first smart beauty mirror its like having a virtual beauty consultant! The intuitive, touch-free design gives you a beauty, skin, and health analysis. The Smart Body Scale is an accessory to the HiMirror, and it measures weight, body fat percentage, body mass index, total body water, skeletal muscle mass, bone mass, and basal metabolic rate. All data is displayed on a simple interface. You can purchase the products at

For more beauty tips, tricks and product recommendations, subscribe to Beauty News with Angela Cruz at

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Mesenchymal stromal cells from horses show potential for healing skin wounds – Horsetalk

Equine mesenchymal stromal cells have been shown to have antibacterial properties, raising the possibility they could aid in healing troublesome skin wounds in humans and horses.

Mesenchymal stem cells, or MSCs, are multipotent connective-tissue cells that can differentiate into a variety of cell types, including bone cartilage, muscle and fat.

Chronic skin wounds in humans are common and their treatment is often complicated by pathogenic bacteria. Therefore, safe and innovative treatments to reduce the bacterial load in such wounds are needed.

MSCs have been reported to provide local hormonal signals that promote healing in skin wounds. However, the effects of equine MSCs on the growth of bacteria commonly found in skin wounds has not, until now, been explored.

Researchers from the College of Veterinary Medicine at New Yorks Cornell University have been the first to show that equine MSCs possess antimicrobial properties which stymied the growth of Escherichia coli (E. coli) and Staphylococcus aureus (S. aureus).

The MSCs did so in part by secreting antimicrobial peptides and depolarizing the bacterial cell membranes.

Rebecca Harman, Gerlinde Van de Walle, Steven Yang, and Megan He, writing in the journal Stem Cell Research & Therapy, said they focused on the antibacterial properties of MSCs from horses, as this animal model offered a readily translatable model for therapies in humans.

The study team described the laboratory experiment they set up, in which MSCs were isolated from the blood of healthy horses. The bacteria were cultured in the presence of MSCs and an MSC conditioned medium a processed fluid containing all factors secreted by the cells.

They found that both the MSCs and the MSC conditioning medium inhibited the growth of both bacteria, and that the conditioning medium depolarized the cell membranes of these bacteria.

The conditioning medium was found to contain four antimicrobial peptides, cystatin C, elafin, lipocalin 2, and cathelicidin. These appeared to be at least partially responsible for the antibacterial action.

They also looked for the presence of beta defensin 2 in equine MSCs since it has been found to be secreted by human umbilical cord-derived MSCs. It belongs to a widespread family of antimicrobial peptides found in most mammals, including horses. To the surprise of the research team, they could not detect beta defensin 2 in equine MSCs.

Our results, they concluded, demonstrate that equine MSCs inhibit bacterial growth and secrete factors that compromise the membrane integrity of bacteria commonly found in skin wounds.

There appeared to be a difference in the underlying mechanisms targeting each species, withdifferent secreted factors appearing to target different bacteria.

It will be interesting, they said, to study the effects of the MSC conditioning medium on additional bacterial species commonly found in equine skin wounds. The findings will likely be relevant to human as well as veterinary medicine, they said.

Since we found that equine MSCs secrete a variety of antimicrobial peptides that appear effective against both gram-positive [S. Aureus]and gram-negative [E.Coli] bacteria, these cells may serve as a broad-spectrum treatment to control bacterial growth and kill bacteria, without leading to resistance.

The study team said they now intended to evaluate the effectiveness of equine MSCs in healing both acute and chronic wounds.

Antimicrobial peptides secreted by equine mesenchymal stromal cells inhibit the growth of bacteria commonly found in skin wounds Rebecca M. Harman, Steven Yang, Megan K. He and Gerlinde R. Van de Walle Stem Cell Research & Therapy 2017 8:157 DOI: 10.1186/s13287-017-0610-6

The study, published under a Creative Commons License, can be read here.

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Mesenchymal stromal cells from horses show potential for healing skin wounds – Horsetalk

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Sex for procreation will be obsolete in 30 years, researcher says – CTV News

A U.S. biomedical researcher believes most babies will be made in the lab instead of the bedroom within the next two to three decades — a bold prediction that could halt genetic predisposition to certain diseases and introduce a new plane of biological inequality.

Hank Greely, the director of Stanford Law Schools Center for Law and the Biosciences, told attendees at the Aspen Ideas Festival earlier this week that replacing sex as the primary means of baby-making will save women from undergoing fertility treatments, reduce health care costs, and give non-traditional families more avenues to have children.

Greely predicts most prospective parents will soon opt to choose from a range of embryos created by taking female skin samples and using stem cells to create eggs, which are then fertilized with sperm.

The range of embryos would be audited for genetically transmitted diseases such as Huntingtons, and perhaps even DNA indicators for breast cancer and Alzheimers. The process could also allow for the selection of cosmetic features, like hair and eye colour, and even complex traits such as intelligence.

Some of this can already take place through costly pre-implantation genetic diagnostics and in vitro fertilization. But Greely imagines, in the future, such selection will become commonplace as the technology becomes cheaper and perhaps even subsidized due to the offset in other medical costs.

University of Toronto bioethicist Kerry Bowman warns that widespread adoption of multiple embryo selection would be quite a deviation from the status-quo, and would mark a shift that makes longstanding fears about genetic predetermination a reality.

It could lead to inequality. Who could afford such a technique? he asked CTV News Channel on Thursday. When we have some people that are selected to the point of almost being enhanced, weve got more inequality added on top of that.

Beyond the issue of cost and the ethical taboo of so-called designer babies, Bowman points to the moral implications of creating additional embryos with the knowledge that some will be discarded.

What are you going to do with them? He (Greely) seems to be talking about a very large amount of embryos. That is one concern, Bowman said.

With that in mind, however, he expects many people will embrace the rise of scientific intervention in human reproduction for the mere possibility of diminishing the risk of disease.

If you could prevent a child being born into a life of suffering, most people would be very supportive of that, Bowman said. Historically, weve thrown the dice.

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Sex for procreation will be obsolete in 30 years, researcher says – CTV News

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Gene Editing Controversy Reminds Us Just How Much Money Influences Science – Gizmodo

Recently, a kerfuffle in the world of CRISPR illustrated just how easily moneyand our perception of itcan impact science.

In late May, a paper came out questioning how effective the gene-editing technology really is. Working with mice, researchers found that edits made with CRISPR can also result in thousands of unintended changes to a genome. The study cast serious doubt on whether CRISPR is ready for prime time.

The fallout was swift. Stock prices of three CRISPR companiesEditas Medicine, Intellia Therapeutics and CRISPR Therapeuticstumbled. Scientists affiliated with those companies fired back, questioning the studys methodology. Stocks bounced back. The scientific world was set atwitter, questioning not only the validity of the initial study, but how to trust a rebuttal against that study when it came from those who stood to lose the most from its publication.

Conflicts of interest arent a new problem in science. One frequently-cited example is the role that tobacco industry-funded scientists played in distorting the health consequences of smoking. There is a significant body of evidence suggesting financial interests can correlate with favorable results. But, conflicts of interest arent always all bad. Research funding from sources with a vested interest in a topic can sometimes help advance science that otherwise might not get funded at allthink the patient advocacy groups funding cures for little-known diseases.

Whats undoubtedly true is that money plays a significant role in science. And rarely has there been as much money at stake as with CRISPR, the nascent gene-editing technique that promises to cure everything from genetic disease to global famine by allowing researchers to easily cut and paste particular genes. When scientists whose fortune and reputation hinges on a particular technology speak out against a paper questioning that technology, its hard not to wonder how that bias might factor in.

There is this unspoken assumption the people in academia are driven primarily by the quest for knowledge and the science, Josephine Johnston, a bioethicist at The Hastings Institute, told Gizmodo. But in recent history, controversies over things like tobacco and GMOs have begun to erode that perception. When it became clear that more and more scientists have a specific financial stake, it caused a lot of concern, Johnston said.

When it comes to CRISPR, the financial stakes are certainly complicated. Two separate groups of scientists have long been embroiled in a battle over the patent for the technology, with one headquartered at The Broad Institute of MIT and Harvard, and the other at U.C. Berkeley (so far, the US has awarded the patent to Broad but Europe and China have sided with Berkeley). The patent gives the scientists the ability to license the technology. In this case, Broad has licensed the technology to Editas, a company founded by scientists at both Berkeley and Broad. Berkeley licensed its patents Intellia, which Berkeleys Jennifer Doudna is also a founder of, as well as to CRISPR Therapeutics.

Most of the headline-grabbing scientists associated with CRISPR have major financial stakes in publicly traded CRISPR companies, creating a strong incentive across the industry for CRISPR to succeed. The concern is that a CRISPR-favoring bias could potentially cause researchers to misinterpret or skew study results, or forge ahead with human clinical trials before CRISPR is really ready.

Thats not to say that theres necessarily anything wrong with the points industry-affiliated CRISPR scientists raised in their rebuttal to the paper questioning their science. In fact, several other scientists raised similar concerns.

Finances certainly can influence science. Not just companies, but also the premises supporting government grant finances, George Church, an author of the rebuttal paper and founder of Editas, told Gizmodo via email. We were basically raising issues that the original authors can address. This, fortunately, doesnt require perfect unbiased authors. Anyone can point out a potential problem.

Michael Kalichman, director of UC San Diegos research ethics program, pointed out that financial interest isnt the only bias that scientists have to be wary of.

Weve talked about conflicts of interest for many years in science and for many reasons much of that focus has been on financial conflicts. For one, its easy to see, he told Gizmodo. What I find astonishing is that even scientists forget that there are other conflicts that can influence work, like tenure, your reputation or just being excited about an idea.

Kalichman said his biggest concern is less that scientists are actually doing anything unethical, and more that financial conflicts of interest create the perception that they are. The paper that sparked the CRISPR controversy received press in most major news outlets, and the blowback against it has received significant attention, too.

Part of me is worried about the way [this CRISPR fight] is playing out because of the picture it paints of science, he said. We have this battle going on in the pages of scientific journals that creates this perception that this is what science is about when most of science is not about this.

Johnston echoed those concerns.

The introduction of these financial interests muddies the water enough that people dont know who to trust, she said. Whether or not we can see anything wrong with either study, or anyone else can, theres still this suspicion that the financial stakes must have played some role here. Thats a very corrosive thing across science.

In the initial Nature Methods paper, scientists from Stanford and University of Iowa working to cure blindness in mice found that while CRISPR did successfully edit the gene for blindness, it also caused mutations in more than a thousand unrelated genes. The consequences of those off-target effects, far more extensive than previously realized, are largely unknown. This finding warns that CRISPR technology must be further tailored, particularly before it is used for human gene therapy, the researchers wrote.

As mentioned, scientists associated with CRISPR companies were not the only ones, or even the first, to criticize the studys design. Many scientists raised red flags about basic mistakes, such as misidentifying genes, mislabeling genetic defects, and the small number of animals the researchers had included in their research. But other scientists found the reaction against the paper, was written as a brief letter to the editor intended mainly to point to an area where more study might be needed, to be overwrought. Some, like UC Davis professor Paul Knoepfler, suggested the real problem was that the results had been over-interpreted and blown up in the press, setting in motion an out-sized blowback.

Scientists from Intellia and Editas both sent separate letters to Nature Methods, forcing it to eventually add a note to the study about the controversy surrounding the letter. Whats more, in publishing their own study taking down the initial works methodology, scientists associated with Editas opted to publish a pre-print online before it was peer-reviewed, though the initial paper did go through a peer review process. And while the response paper mentions the institutions and companies each author is affiliated with, there is no clear conflict of interest section. (Church said conflicts of interest will be included with journal publication.)

This week, a pre-print of a second paper published by scientists at Intellia that reanalyzed the original papers data and found far fewer off-target edits also appeared online.

In a statement, the Broad Institute said that the peer review process should weed out the impact of any conflict.

Scientific paperswhether making a new claim, or analyzing an existing scientific claimshould always be subject to rigorous evaluation by the scientific community to establish whether the scientific evidence actually supports the argument in the paper, the Broad Institute told Gizmodo. Such review by the community provides protection against incorrect arguments, whether due to a scientific error, financial or reputational interest, or something else.

Most journals and research institutions have a comprehensive conflict of interest policy. In 2010, UNESCO called for journals to adopt a common standard of dealing with the complex and growing financial arrangements that have developed in recent years between vested interests and independent scientists. Even so, sometimes those ties wind up omitted.

Kalichman said more might be needed to address conflicts of interest in the realm of basic science.

In clinical research, you do everything you can to separate financial interests from the people doing the work, Kalichman said. We dont really talk about that in basic research, but maybe we need to do something like that. Maybe if you have a financial interest, youre not the one that looks at the raw data.

Its next to impossible to fully weed out conflict in sciencebe it financial or otherwise. Besides, it makes sense that scientists should be able to make money off of their own work. But its also impossible not to acknowledge that those interests can influence the science. How could they not?

Update: This story has been updated to include mention of the Intellia study.

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Gene Editing Controversy Reminds Us Just How Much Money Influences Science – Gizmodo

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Ipswich mom honored as Science Super Hero – The Salem News

IPSWICH An Ipswich mom has been crowned a Science Super Hero by the Science Channel.

Jocelyn Duff was recognized as the June honoree of the networks monthly initiative for furthering science in her community and encouraging the next generation of innovators and problem solvers.

Duff, a physicians assistant, is the founder and executive director of CureCMT4J, an all-volunteer, nonprofit foundation inspired by her 11-year-old daughter, Talia.

In 2015 Talia was diagnosed with Charcot Marie Tooth Type 4J (CMT4J), a rare disease known to affect approximately 22 people worldwide. The neuro-degenerative disease, like ALS, causes progressive muscle weakness, leading to paralysis and respiratory compromise.

Duff founded CureCMT4J in June 2016 to address an expedited path toward a gene therapy cure. She quickly assembled a scientific team of world experts who began pre-clinical work in October 2016 at Jackson Laboratories, through a grant from the National Institute of Health.

In December 2016, CureCMT4J funded the first viral vector production for CMT4J through the University of North Carolina-Chapel Hill. Duff expects proof of concept results this summer. CureCMT4Js goal is to reach a human clinical trial as quickly as possible to save Talia and help others afflicted with rare diseases.

The Science Channel nominates three Science Super Heroes monthly from any of the following categories: Super Star (CEO or professional), Shooting Star (super fan), and Rising Star (college student). Each Science Super Hero is highlighted on-air on Science Channel the first Thursday of the month and across all Science Channel social platforms for the entire month.

To learn more about CMT4J or to donate towards a cure go to

Mary Markos may be contacted at 978-675-2708 or


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Ipswich mom honored as Science Super Hero – The Salem News

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Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete – PLoS Blogs (blog)

A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. Theyre relieved to find out that cystic fibrosis (CF) isnt something they need worry about passing to their children neither has any of the few dozen mutations the test panel includes.

The couple do not carry the most common 32,106, or even 139disease-causing mutations in the CFTR gene, the number depending upon the testing lab. But that could be a problem a false negative if the woman and man are anything other than non-Hispanic whites.

More than 2,000 variants (alleles) of CFTR are known, and their prevalence varies in different populations. Thats not because DNA recognizes the race or nationality of the person whose cells its in, but because of how we choose our partners.

CF Among Asians

For people of Asian ancestry, the available CF test panels are pretty much useless, according to an article (Ethnicity impacts the cystic fibrosis diagnosis: A note of caution) and an accompanying editorial (Dont judge a book by its cover: the emerging challenge of diagnosing CF in non-Caucasians), in the latest issue of the Journal of Cystic Fibrosis (both unfortunately behind a paywall).

Barbara Bosch, from the University Hospitals Leuven in Belgium and colleagues, compared CF symptoms among 234 Asians represented in the internationalCFTR2database to 53 patients in the UK CFdatabase.

In European whites, CF tends to cause lung congestion (often with Pseudomonas aeruginosa infection), pancreatic insufficiency, salty sweat, and likely one or two copies of the mutation F508del, which deletes one of the proteins 148 amino acids. Asians had been thought to have more severe lung disease than the classic European cases, but it turns out that they have poorer lung function overall, making CF seem worse. Asians also have less salty sweat, much better pancreatic function, and fewer cases of CF-associated male infertility. It isnt surprising that CF cases among Asians can be missed or misdiagnosed.

The most important distinction between European white and Asian populations, for treatment purposes, is the CFTR mutations. While 73% of people recognized to have CF worldwide have at least one copy of F508del and 70% of Europeans with CF have two copies, the mutation accounts for only 12-31% of CF alleles among Asians, and none (so far noted) in Korea, Japan, Thailand, and Vietnam. Last year researchers discovered a CFTR mutation in theChinesenot yet found in other populations. Having F508del or a handful of other specific mutations is a prerequisite for the targeted treatment ivacaftor (Kalydeco) and only F508del for ivacaftor combined with lumacaftor (Orkambi).

Asian roots impact on all 3 CF diagnostic pillars, the researchers conclude, referring to the lung and pancreas symptoms, the salty sweat, and the mutations. To avoid misdiagnosis as something like tuberculosis, which has happened to Chinese children with CF, the investigators suggest a more personalized approach to diagnosing the condition that considers ancestry. But parsing populations to better target genetic tests is running up against genetic admixture diversity at the DNA level when parents are from different backgrounds.


In this age of ads everywhere and even dog breed DNA testsavailable at Wal-Mart, shouldnt we gear genetic disease tests to ancestry, restricting the mutations? But theres a catch-22. Returning to the example of CF, if Asians (and presumably other non-whites) are misdiagnosed when their clinical presentations dont match the classic white phenotype, then their mutations wont enter the databases that guide test development.

A better approach than meticulously cataloging ancestors and testing for the few identified mutations in prospective parents, especially given faster and cheaper DNA sequencing, is what the company GenePeeksis pioneering: mining as much information about a gene as possible, and applying it to all patient samples. That means deducing every way that a gene can vary, with extra, missing, and substituted DNA bases. So far theyve interrogated more than 1,000 genes.

For CF, GenePeeks curation process predicts changes in the 188,702 DNA base sequence of CFTR that alter the encoded proteins structure or function in ways that could affect health. F508del entraps CFTR protein in the twists and turns of the cells secretory network, so it cant reach the surface where it should monitor ion (salt) transport. A different mutation might slow the proteins journey to the cell membrane, and another close the ion channels too quickly. For some genotypes, symptoms might be so mild that a clinician not familiar with the diverse guises of CF wouldnt make the diagnosis. Chronic sinusitis or male infertility may be the lone manifestations.

GenePeeks analysis extends to interactions of mutations. For example, their algorithms can pick up when two people have mutations in different parts of the gene that complement, so that together in their child, the protein functions well enough to support lung health. A lab just cataloging mutations without considering how a pair of them might theoretically interact (based on biochemistry) might conclude that the risk of the child inheriting CF is 25%, when its not. In the future, analysis will ideally include gene-gene interactions.

Several recently announced collaborations are bringing GenePeeks expertise to parts of the world where populations are young and more global genetic testing needed: Saudi Arabia, the United Arab Emirates, Oman, Qatar, Bahrain, Kuwait, Lebanon, Jordan, Turkey, India, Pakistan, South Africa, Egypt, Ghana, and Kenya. The desire to protect a future child from serious disease is universal. Were trying to meet that need with better screening tools in markets that have been underserved historically, GenePeeks CEO Anne Morriss recently told me. Whenever the company becomes aware of a clinically important variant of any gene, they add it to their list for anyone not just a member of the population in which the mutation was discovered.

Genetic Testing for All

While genetic testing companies are expanding their offerings, some of them are still not keeping up with admixture. Even recent recommendationsto increase the roster of genes in preconception carrier screens require that a disease have a carrier frequency of at least 1 in 100. But where? Among whom?That criterion might miss a disease thats rare in a larger population yet concentrated in a subgroup.

Thats the case for Steel syndrome, which causes joint pain, hip dislocation, pinching of the spinal cord in the neck, short stature, and characteristic facial features, due to a mutation in a collagen gene. Its much more common among residents of East Harlem in New York City who are of Puerto Rican ancestry than among other groups. Hip surgery, which is done for the same symptoms arising from an injury, could harm a person with Steel syndrome. Because some people who identify as Hispanic may not be aware of Puerto Rican ancestry, adding the Steel syndrome mutation to orthopedic genetic testing panels or collagen panels makes sense. The 1 in 100 carrier frequency rule would miss the disease in East Harlem. (I told the Steel syndrome story here.)

GenePeeks approach celebrates the dynamic complexity of the human gene pool. The protocol recognizes the realities of global migration and diversity. People move they always have and always will. A couple with Middle Eastern ancestry can just as easily walk into a doctors office in LA as Dubai, says Morriss.

Direct-to-consumer genetic testing websites can oversimplify the situation, presenting carrier testing as a yes/no situation: you have a mutation or you dont. If you are starting a family, find out if you are a carrier for certain inherited conditions, advertises 23andme. A carrier can actually mean hundreds if not thousands of different things! We have two copies of each gene (except the X in males), and each gene, because it has thousands of building blocks, comes in many flavors.

So before we all load our genome sequences onto our smartphonesand start doling out dough for analysis to the companies that are now planning this new addictive service, researchers need to learn all there is to know about specific genes in us all.

Who ever knew genetics could be so complicated?

Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete – PLoS Blogs (blog)

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