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Is genome sequencing the answer to rare diseases? – Hyderus Cyf

Rare diseases despite the infrequency that the name confers cumulatively affect around 350 million people worldwide. This figure includes roughly seventy million Indians. Could genome sequencing prove to be the tool that begins to spark medical innovation and diagnosis for the millions affected by such disorders?

The Economic Times notes a recent case in which genome sequencing has proven to be an effective means of diagnosis for conditions classified as rare diseases. A woman, who was at the time three months pregnant, came to see a paediatrician at Government Medical College in Kozhikode wanting to know if there was a way to find out if her unborn child could develop a rare immune disease her firstborn was suffering from.

The article notes that the white blood cells in her six year-old daughters body behaved abnormally, leading to organ infections and rimpaired growth. Doctors, so far, had been unable to cure the girl, she said. While the name of the condition is never revealed in the article, many rare diseases also fall under the categorisation of autoimmune disorders, such as Ashersons syndrome.

The woman underwent an antenatal procedure to retrieve genetic material from the unborn child. This was analysed and compared to genetic testing performed on the six-year-old daughter. The tests brought the welcome news that the womans baby would not have the same genetic disorder as her previous child.

This test had the luxury of comparing directly to a relative. However, most testing has to be compared to databases with one major drawback. No reliable genetic information of Indians is available and for research, our scientists have to rely on gene data banks from the US and the UK or of Caucasians, said Council of Scientific and Industrial Research (CSIR) director-general Shekhar C. Mande.

As of now, Indian genomes only represent 0.2 percent of the global genetic databanks. The current majority of genomes around 96 percent are of European ancestry. Ignoring the study of Indian genes leaves what could be a medical goldmine all but untapped.

Previous genomic studies conducted in India have uncovered genes exclusive to the Indian population that present a unique risk in developing diabetes. Knowledge of risks such as these can allow for the Indian medical system, as well as government policy, to be better informed when making decisions regarding disease prevention and treatment.

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Q: What do I need to know before trying for a baby? – The Canberra Times

life-style, life,

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy. Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception. For men, a healthy weight will improve the quality of his sperm. For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery. We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant. For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible. Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression. You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella. By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant. There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available. Pre-pregnancy genetic testing While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate). If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences. If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer. It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

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November 19 2019 - 6:00AM

For the average couple, we give the lifestyle advice to stop smoking and to cease drinking alcohol when trying to conceive. Ensuring you have a healthy diet and are exercising regularly are also important. These general changes will improve the chance of getting pregnant and will give you a much less complicated pregnancy.

Achieving a healthy weight before pregnancy is very important in improving ovulation and increasing the chance of spontaneous conception.

For men, a healthy weight will improve the quality of his sperm.

For women it will help them to have a healthier pregnancy (such as reducing the chance of developing gestational diabetes) and assist with easier delivery and recovery.

We also need to consider those with underlying medical problems such as diabetes, high blood pressure and epilepsy. It is always advisable to make sure that they have those conditions well under control before they get pregnant.

For example, uncontrolled diabetes can increase the chance of fetal anomaly, pre-eclampsia can also affect the placenta function and increase the risk of growth restriction. There are certain medications that are not safe to take when you are pregnant. It is advisable to review all your medications with your doctor to change to safe in pregnancy medication if possible.

Pregnancy multivitamins and folic acid (which reduces the risk of neural tube defects) should be taken at least three months before you are planning to become pregnant, or as soon as possible once you do fall pregnant. Taking omega 3 does have lots of value in pregnancy. It helps the fetus brain development as well as reduce postpartum depression.

You should see your doctor about checking things such as your iron level and thyroid function, which require a simple blood test. Your vaccination status also needs to be checked, because we want to make sure you are immune to certain things like measles, mumps and rubella.

By doing this before you are pregnant, we have that opportunity to give you the appropriate vaccinations to make sure you are immune by the time you get pregnant.

There has been more and more things in the media about genetic testing and what couples need to be aware of, so see your doctor for the correct advice because there's a lot of information available.

Pre-pregnancy genetic testing

While genetic testing is becoming more widely available, it is not vital unless you are at a high risk of passing on specific conditions. This could be couples with a previous child affected with some genetic problem, or those with a strong family history of genetic abnormalities (like cystic fibroisis, sickle cell disease, heart defect, cleft lip or palate).

If you think you might be in this high-risk category you should see a genetic counsellor to discuss what tests you may need, and what the risks are of such occurrences.

If a couple is using IVF to conceive there is an option to do a pre-implantation genetic test. The embryos can be tested for certain conditions prior to embryo transfer.

It's a good idea to research your family medical history so that your doctor can determine whether genetic testing should be done and whether you fit into the low risk or high risk category for these.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists has patient information about genetic screening on their website.

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Q: What do I need to know before trying for a baby? - The Canberra Times

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All the reasons why 2018 was a year of the outbreak of DNA data – asume tech

Genetic IQ tests. DNA detective work. Virtual drug trials. These were some of the surprising new uses of DNA information that emerged in the last 12 months, when genetic studies became more extensive than ever before.

Think back to the year 2003. We had just deciphered the first human genome, and scientists were still looking for very specific genetic errors that cause serious hereditary diseases such as muscular dystrophy. Now, however, we are dealing with information about millions of genomes. And the hunts are not just bigger they are fundamentally different. They begin to uncover the genetic roots of common diseases and personality traits, and they make the genetic privacy as good as impossible.

Here are the trends you need to know WITH Technology ReviewOwn reporting last year.

Consumer: It's all about genetic data. Now it is being collected by millions of people, both national and commercial.

Last February, we reported that as many as 12 million people had DNA tests on consumers. Since that number has reliably doubled every year, it's likely to be up to 25 million. In fact, DNA reports are now a mass product. During the Thanksgiving weekend, AncestryDNA's genetic test, which reveals where her ancestors came from, was among the best-selling items.

Big data: To understand the genome, scientists need to study as many people as possible simultaneously. In 2018, several hunts exceeded the million-person mark for the first time. These included the search for genetic foundations for insomnia and educational success. To this end, the researchers used national biobanks and received support from 23andMe, the well-known genetic testing company whose users can register to participate in research.

Polygenic scores: Some diseases are due to a single gene that goes awry. But big killers like heart disease are different instead, they're influenced by hundreds of genetic factors. Because of this, a new method for predicting risks from the entire human genome was the most important story of the year (see polygenic scores on our list of 10 groundbreaking technologies). The new findings may affect a person's chances of getting breast cancer, going through college, or even being big enough for the NBA. In 2019, keep an eye on genetic testing companies such as 23andMe and Color Genomics to see if they are commercializing such gene predictions.

Genetic IQ tests: Genes do not just influence how we look, but who we are. Now some scientists say that the same DNA scores can give a reliable idea of how intelligent a child will be later in life. The unanswered question: how should we use this information, if at all?

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To test embryos: Yes, that is probably how it will be exactly like this science fiction movie Gattacaabout a world where parents pick their children out of a petri dish. IVF centers are already conducting genetic tests and parents are picking embryos to avoid certain serious disease risks. Now, Genomic Prediction, a New Jersey company we presented exclusively in 2017, is ready to test embryos to assess their future educational potential. So forget about CRISPR babies designer kids are already here.

Racist prejudices: Here is something that is not so great: About 80% of the DNA ever analyzed comes from Whites of European descent. This means that some new discoveries and commercial tests only work with whites and do not apply to Africans, Asians, Latinos or other ancestor groups whose genetic patterns are different. There are good scientific reasons to expand the gene hunt, says the geneticist of Stanford University, Carlos D. Bustamante. We may miss health breakthroughs if we look too closely.

Imitation of clinical studies: Did you know that you are part of a gigantic, random experiment? This is true. Or at least some geneticists see you like that. And now they've come up with a very clever trick called Mendelian Randomization that uses human medical information to predict which new medicines work for them and which do not.

Crime fighter: The more DNA data you have, the easier it is to find out who owns a drop of blood or a hair follicle. That's what the Golden State killer experienced in April, when he was caught in the nuisance of using an informal collection of DNA profiles and genealogical trees. In fact, the genetic anonymity of how mathematics works is broken because pretty much all of us already have a relative in a DNA database. A genetic genealogist, CeCe Moore, told us that she has identified 27 murderers and rapists since April. A very good year.

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A Weird Battle of the Sexes is Happening Between Weed and Hemp – Weedmaps News

Outdoor marijuana growers are reporting an increase in cross-pollination from hemp farms, a development that could mean marijuana cultivators might lose upwards of tens of thousands of dollars if their plants become unmarketable as flower products.

As the marijuana and hemp industries increasingly share the same cultivation territory, the number of conflicts is likely to increase, particularly in areas with thriving outdoor cannabis cultivation.

Washington state is a case in point. In April, Gov. Jay Inslee signed Senate Bill 5276 into law, opening the state up to hemp production in response to the 2018 Farm Bill in part by removing the previous 4-mile buffer between outdoor marijuana grows and hemp farms.

At least one marijuana farmer has experienced firsthand the consequences of this change in the law.

We took a big hit, said Robert Morf, who owns and operates Cheshire Creek, an outdoor marijuana cultivation operation in Waterville, Washington.

He estimated he will lose about $40,000 this year after his midsized, 600-plant farm was cross-pollinated by pollen from the male plants he said came from a neighboring hemp grower.

According to Morf, his flower is full of seeds, reducing the usable volume and overall quality and value of the crop. He won't be able to sell it on the wholesale or retail flower market and will take a financial hit by selling it all for extraction.

Morf has grown marijuana for three years out in the middle of nowhere with no other cannabis cultivators for 30 miles. He didn't have any trouble with his neighbors until the buffer was removed under the new hemp law.

The hemp grower who leased the land from the farmers across the road assured Morf the plants would be grown from clones. Since Morf was there first with his marijuana operation, it was up to him to give the OK, and he took it on faith the hemp growers would remove the male plants. He thought cross-pollination would have been worse for them than it would have been for me.

Morf contacted his local and state political representatives as well as his contact at the Washington State Liquor and Cannabis Board (LCB), but he found no recourse.

To prove it wasn't his own plants that pollinated his field, Morf pointed out that the LCB's tracking system will show that he planted from female clones.

We've gone through three years of growing, and the most I've seen is a female plant with one bud herming off a stem last year, he added.

Herming refers to a cannabis plant developing both male and female flowers.

Morf has considered suing, but he figures it's not worth the cost.

At this point, it's 'screw it' and move on, he added.

The hemp growers have left the plants cut down in the field and won't be returning next year to farm that land, Morf told Marijuana Business Daily.

A similar problem is shaping up in the bordering state to the south, Oregon.

Pete Gendron, a grower in Sunny Valley and president of the Oregon SunGrowers Guild, estimated the cross-pollination issue is impacting about 8% of the state's marijuana production.

In terms of total acreage affected by cross-pollination, it's an increase from last year, he added.

That's largely because the number of hemp acres has increased by about 500%.

According to Hemp Industry Daily, Oregon had 11,754 acres in 2018 and increased to 51,313 acres in 2019.

His advice to growers looking to avoid male plants showing up in their fields: Buy your seed from a reputable provider and try to make sure your hemp-growing neighbors are using feminized seeds.

Tell them, if you pollinate me, you're going to be pollinating yourself, too, Gendron said.

That being said, it won't save you from field walking, he added, meaning growers still need to check to ensure their plants haven't hermed or that no male plants have grown from seed.

It really only takes one (male plant) to ruin your day, he said.

In Pueblo, Colorado, the area of the state with the largest amount of outdoor-grown marijuana, the county regulators have been working to allow both hemp and cannabis cultivators to coexist.

Steven Turetsky, managing director of Pueblo-based hemp grower Shi Farms, said hemp farmers have been asked to put their best effort forward to not grow male plants.

That's in part because outdoor-grown marijuana has been a shot in the arm to the local economy. The general sentiment is that hemp growers should all use clones to ensure the plants are females.

Obviously, with cannabis, even if you plant from clones, there can be mutation, Turetsky said. But it significantly decreases the risk.

He said he came to the realization that it's beneficial for his company to act in good faith toward marijuana growers. By also only using clones, his company has avoided dealing with vendors who might be selling nonfeminized seeds. We don't want seeds, either, he said.

According to Wendy Mosher, president and chief executive officer of Fort Collins, Colorado-based seed company New West Genetics, a grower will lose about 1% of total cannabinoid content if a field is cross-pollinated.

While Colorado is considered generally favorable to hemp compared to other states with marijuana programs, cross-pollination also is happening to hemp-based CBD farms in Colorado, she added.

When a hemp farm is cross-pollinated, the farmer can thresh the crop to try to salvage some of it. Mosher said one male in a field a mile away can pollinate a crop, and it can be very difficult to determine the source.

It's just impossible to tell where it's coming from, she added.

The U.S. Department of Agriculture (USDA) acknowledges the cross-pollination issue and has set aside money to address it.

In October, the agency awarded $500,000 to a Virginia Tech research team to get better data on pollen drift.

The goal is to predict how and where pollen grains travel.

Researchers will use drones to track pollen, hoping results can inform regulations on how far growers should keep hemp and marijuana apart to prevent damaging cross-pollination.

Having a validated and reliable long-distance transport prediction model for wind-dispersed pollen is critical to establishing appropriate isolation distances, plant sciences professor David Schmale said in a Virginia Tech statement announcing the grant.

Bart Schaneman

Feature image from Shutterstock

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Male Infertility: From diagnosis to treatment – ETHealthworld.com

By Dr. Ajay Murdia

Male infertility is a term that most of you must have heard. It can be defined as the inability of a man to reproduce and with changing times and lifestyle problems is becoming more and more common. There are more than 15% men in India that are suffering from the problem of male infertility and with every passing day things are only getting worse as far as male infertility are concerned. So, the need of the hour is to be concerned about the problem and make sure that it can be minimized.

There are so many causes that contribute to infertility and you need to be aware of them if you are to prevent male infertility. Excessive hand-job is one of the major reasons that can hurt you in the later stage, so you need to be aware about the problem in your teens. The second reason may be any kind of genetic problem which might have seen your father struggling to reproduce, so if there is any kind of history, you need to be aware about that. If you have had any kind of injury in the past on the reproductive organs, then this also might be an issue behind your infertility problems.

For treatment for male infertility, following methods are adopted:The first things that you need to keep an eye on are the symptoms of male infertility and there are so many symptoms that are visible to you. Here are some of the common symptoms of the problem that you need to be aware about and get to doctor if they are over the line:

In addition to the semen analysis, sometimes only general body examination is enough. The procedures like scrotal ultrasound, hormonal testing, post urinal analysis, testicular biopsy and special diagnosis of sperm is also done to find out the problem.Treatment options:Thankfully for you, the solution to this problem is available and if you go to the doctors at an early stage, it can be treated with general treatments only. But if it has become severe, IVF and other procedures may need to be adopted. For treatment for male infertility, following methods are adopted:

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Rename Breast-Cancer Syndrome to Help Save Lives – UroToday

People of all sexes can have risk genes that are often assumed to affect only women. A new name could aid cancer prevention and treatment, argues Colin C. Pritchard. I recently had a conversation with my parents about genetic testing for cancer risk. You mean men also have the BRCA genes? asked my dad. I thought those were the breast-cancer genes, chimed in my mom.

My parents are far from alone in not realizing that people of all sexes (including transgender people) can have mutations in BRCA1 and BRCA2 genes. These genes do encode the proteins associated with susceptibility to breast cancer. But they are also associated with an increased risk of prostate and pancreatic cancer, among others.

Because this is not widely understood, testing is not being done for the right people at the right time. Those who identify as men are especially less likely to be tested.1 And people who are tested can have difficulty understanding the full meaning of their results regarding both their own cancer risk, and the risks to their family members.

In the past year, I was involved in the care of a man with late-stage prostate cancer. He knew that his sister carried a BRCA2 mutation, but he had not been tested for it because none of his medical practitioners had recommended the test. Hed been unable to walk because of cancer-related pain, and was considering hospice care when a new oncologist suggested a genetic test. Finding out that he carried the BRCA2 mutation allowed him to start a more effective cancer treatment, and in weeks he was able to play golf. Whats more, the man had two daughters who thought they werent at risk for the BRCA2 mutation because it was on their fathers side. Both were tested and used the results to take preventive measures that substantially reduce their chances of developing breast and ovarian cancer.

In my view, part of the confusion stems from the fact that people with mutations in BRCA1 or BRCA2 are said to have hereditary breast and ovarian cancer syndrome, or HBOC. This term is not only misleading, it is also cumbersome and hard to remember. Fortunately, there is a simple solution: rename the syndrome.

Whats in a name?Depending on the population, between 1 in 40 and 1 in 400 people carry a mutation in BRCA1 or BRCA2. As such, I estimate that this confusion could be affecting thousands of people with cancer, and their families.

All sexes have the same rate of BRCA1 or BRCA2 mutation; all are equally likely to pass these mutations to their children. Yet a study last year found that, in the United States, over ten times more women were tested for these mutations than were men1 (see Missed tests); rates of testing for genes associated with colon-cancer risk were equal. Other studies have shown that men who have been tested for BRCA1 or BRCA2 mutations and diagnosed with HBOC are often uncertain about their risks of developing cancer, and sometimes keep the information from their families for fear of stigmatization.2,3

As is the case for many terms in medicine, the precise origin of HBOC is difficult to pin down. It first appeared in the scientific literature in the early 1990s, around the time when the BRCA1 gene was identified. In previous decades, people had described hereditary breast cancer and hereditary ovarian cancer as distinct entities, on the basis that such cancers cluster in families. The discovery of BRCA1, and then of BRCA2, allowed clinicians to link HBOC with a specific genetic cause. But at that time, the full spectrum of cancers associated with these two genes was not known.

I propose that HBOC be renamed King syndrome. This is easy to remember. It doesnt imply that the condition affects only one sex, or that people with BRCA1 or BRCA2 mutations will develop only certain types of cancer. And it would recognize the seminal contributions of pioneering cancer geneticist Mary-Claire King, the discoverer of BRCA1 (see Cancer-genetics pioneer).

In the mid-1970s, Mary-Claire King (pictured) was the first to recognize that hereditary breast and ovarian cancer could be accounted for by a single gene; in 1990, she and her group at the University of California, Berkeley, identified the location of the BRCA1 gene.13,14Now at the University of Washington, Seattle, King is recognized15 as a founder of cancer genetics and a long-term advocate for BRCA1 and BRCA2 testing.

Hundreds of thousands of people have been tested for mutations in these genes, and many lives have been saved through cancer prevention. Yet, with an estimated 19 million mutation carriers worldwide at least, we have only scratched the surface.

Instant impactChanging HBOC to King syndrome could have immediate benefits for health-care providers and for all patients.

Flexibility. Removing the sex and cancer specificity from the name would allow more flexibility as scientific knowledge evolves.

People with mutations in genes other than BRCA1 and BRCA2 can have a syndrome that is similar to HBOC. In fact, some investigators have suggested renaming the gene PALB2 as BRCA3. (PALB2 encodes a protein that is involved in the same DNA-repair pathway as the BRCA2 protein, and mutations in both have similar effects.4) In short, the term King syndrome would enable researchers to link other genes to the syndrome more easily as scientific understanding advances.

Communication. Changing the name would also make it easier for people to appreciate that the syndrome occurs in all sexes, can be passed through the male lineage, and can be linked to genes that are not specifically named for breast or ovarian cancer.

Take prostate cancer. The latest US clinical guidelines recommend that people with the most advanced form of prostate cancer are tested for BRCA1 and BRCA2 mutations. This stems from the discovery that a high proportion of people with prostate cancer that has spread to other areas (metastatic) carry mutations in these genes, as well as in other related DNA-repair genes conventionally associated with breast and ovarian cancer. The recommendation also arises from the finding that the presence of such mutations has an impact on the effectiveness of treatments.58

Yet it is only recently that guidelines on prostate cancer were updated to recommend BRCA1 and BRCA2 testing. Before 2017, health-care providers in the United States would have found recommendations seemingly focused on breast and ovarian cancer. Specifically, the information could be found only in guidelines titled Genetic/Familial High-Risk Assessment: Breast and Ovarian.9

In good companyThere is precedent for renaming a cancer-risk syndrome after a leading scientist for clarity.

For several years, health-care providers and others referred to people with mutations in any of four genes involved in a certain type of DNA-repair mechanism as having hereditary non-polyposis colorectal cancer syndrome, or HNPCC. But over the past ten years, specialists have returned to the original terminology: Lynch syndrome. (US physician Henry Lynch, who died last month, did much of the pioneering work in the 1960s and 1970s to identify the familial syndrome.10)

As with HBOC, clinicians and others found the name HNPCC misleading, because it did not accurately reflect the types of cancer to which it has been linked. People with Lynch syndrome are more likely to get colorectal cancer, but can also develop cancer of the endometrium (which begins in the uterus), stomach and ovaries, as well as some forms of bladder cancer, among many others. These individuals are also at risk of developing pre-cancerous lesions in the colon (colorectal polyps), making the non-polyposis part of the old name especially misleading.

Some might disagree that King syndrome is the best choice for a new name, because it doesnt describe the syndrome. They might instead favour something like homologous recombination DNA repair deficiency syndrome. But such a name would again be hard to remember for providers and patients.

Others might worry that testing rates among cisgender women (whose gender is the same as their birth sex) could decrease under the new name (especially given the male connotations of the word king), and that related health care could suffer. I acknowledge the potential downsides, but think that these would be outweighed by improvements in care that could follow. The name could help people to understand that their cancer risk is not limited to breast and ovarian cancer. It might also help them to better communicate the risks to their family members, or to a new health-care provider, and so increase the chance that testing is done.

Renaming HBOC could even spark a wider discussion around confusing names for cancer genetic syndromes. Hereditary diffuse gastric cancer syndrome, for instance, is caused chiefly by inherited mutations in CDH1, which encodes a protein that helps to establish and maintain the shape of epithelial cells, such as those found in the gut lining. People with these mutations are much more likely than the general population to develop a certain type of breast cancer,11 and the children of families with this syndrome are at risk of having some types of congenital malformation, such as a cleft lip.12

Ultimately, using names that are simple and flexible, instead of obtuse and out of step with emerging understanding, could save lives by improving communication and awareness.

Written by: Colin C. Pritchard, Associate Professor, Department of Laboratory Medicine, University of Washington and Head of Precision Diagnostics, Brotman Baty Institute for Precision Medicine, Seattle, Washington

References:1. Childers, K. K., Maggard-Gibbons, M., Macinko, J. & Childers, C. P. JAMA Oncol. 4, 876879 (2018).2. Rauscher, E. A., Dean, M. & Campbell-Salome, G. M. J. Genet. Couns. 27, 14171427 (2018).3. Strmsvik, N., Rheim, M., yen, N., Engebretsen, L. F. & Gjengedal, E. J. Genet. Couns. 19, 360370 (2010).4. Antoniou, A. C. et al. N. Engl. J. Med. 371, 497506 (2014).5. Castro, E. et al. J. Clin. Oncol. 31, 17481757 (2013).6. Mateo, J. et al. N. Engl. J. Med. 373, 16971708 (2015).7. Na, R. et al. Eur. Urol. 71, 740747 (2017).8. Pritchard, C. C. et al. N. Engl. J. Med. 375, 443453 (2016).9. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 2.2019 (2019).10. Lynch, H. T., Snyder, C. L., Shaw, T. G., Heinen, C. D. & Hitchins, M. P. Nature Rev. Cancer 15, 181194 (2015).11. Hansford, S. et al. JAMA Oncol. 1, 2332 (2015).12. Figueiredo, J. et al. J. Med. Genet. 56, 199208 (2019).13. Hall, J. M. et al. Science 250, 16841689 (1990).14. King, M. C. Science 343, 14621465 (2014).15. King, M. C., Levy-Lahad, E. & Lahad, A. J. Am. Med. Assoc. 312, 10911092 (2014).

Nature. 2019 July 4; vol 571, 27-29 doi: 10.1038/d41586-019-02015-7.

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Henry Cavill Breaks Down His ‘The Witcher’ Workout Routine – menshealth.com

Henry Cavill is Superman, yesbut the legend of the British actor's physique isn't limited to his role as the Man of Steel.

He's become one of Hollywood's most dependable hardbodies, even without the good fortune of being named Chris. Cavill's powerful arms even became a rare non-superhero physique meme when the Mission Impossible: Fallout trailer dropped, showcasing a mind-melting moment when he appears to reload his biceps mid-fight, sprouting 5 o'clock shadow and creating a breast pocket on a shirt that previously had none. This was more likely an editing mistake than a power up, but it looks absolutely awesome.

Cavill has had to train hard for those muscles. The actor opened up to Men's Health for a wide-ranging cover story, and he shared that he was teased growing up for being "a chubby kid." Now, he's built up a meme-worthy frame with Dave Rienzi, who is also Dwayne Johnson's strength and conditioning coach (yes, even The Rock has a coach). Rienzi has worked with Cavill through Superman shoots to now, as the actor takes on the lead role of Geralt in Netflix's fantasy epic The Witcher.

The MH team caught up with Cavill and Rienzi in the weight room to get a behind the scenes look at the actor's Witcher routine. Every morning, Cavill started his day with fasted cardio. Cavill also hit the weights hard, whenever he was able to fit in a workout with his busy shoot schedule.

Importantly, Cavill notes that the exercises he and Rienzi highlighted for MH aren't meant to be performed all together as one complete routine. "Those are moves that we put into workouts, depending on which muscle group or muscle groups we're working that particular day," he told the MH crew. The list covers his whole body, from the posterior chain to core to biceps.

Cavill is also quick to point out that not everyone is Supermanand that's perfectly okay. "The most important thing to remember is that you are you," he says. "Everyone has a different genetic makeup, everyone is at a different stage of fitness or training or even has a different amount of calories going in. So you do you, and just make sure that every workout is as hard as you can do it."

If you want to train like Cavill, mix these exercises into your workouts on the appropriate training days, with posterior chain movements in lower body sessions and arm movements for upper days.

4 second negative, 2 second pause

2 second hold at the top

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Section 377A constitutional challenge: Expert evidence reveal sexual orientation cannot be changed at will, lawyers argue – The Online Citizen

The legal team advocating the repeal of Section 377A of the Penal Code which criminalises acts of gross indecency between men argued before the High Court on Mon (18 Nov) that sexual orientation is a product of genetic and environmental factors, and cannot be changed at will.

Lawyers Eugene Thuraisingam, Suang Wijaya and Johannes Hadi of Eugene Thuraisingam LLP, on behalf of applicant DJ Johnson Ong Ming, said that the preponderance of scientific evidence shows that human sexual orientation ranges along a continuum, from completely heterosexual to completely homosexual.

In between are bisexuals who have varying degrees of preference for either sex, the lawyers added.

Homosexuals, like heterosexuals, cannot wilfully change their sexual orientation and/or attraction. There is no credible scientific evidence which supports the proposition that therapy aimed at changing sexual orientation (such as reparative or conversion therapy) is safe or effective, they argued.

Consequently, the crux of the legal teams argument is that Section 377A in the Penal Code violates two provisions in the Singapore Constitution, namely Article 9 of the Constitution which guarantees the right to life and personal liberty, and Article 12 which guarantees equal protection before the law.

Sexual activity between consenting adult males in private, according to Mr Ongs lawyers, neither harms nor impinges upon the rights or interests of any other persons.

Section 377A therefore violates Article 9 and 12 of the Constitution. It is absurd, irrational and discriminatory to criminalise a person on the basis of his natural, unchangeable identity and for non-harmful private acts, they added.

The relevant section in the Penal Code also reinforces the majoritys good old-fashioned discrimination against male homosexuals, who are a minority in Singapore, according to Ongs legal team.

The role of our Constitution and the Court is to protect minorities against the absurd, irrational prejudices of the majority, his lawyers argued.

Three medical experts were called by Mr Ongs legal team in the immediate case, namely:

The Attorney-Generals Chambers (AGC), the respondent in all three cases, called the following experts:

Little to no scientific evidence in support of proposition pinpointing socio-environmental factors as cause for homosexuality and bisexuality, according to medical experts on both sides

Experts from both sides concurred that genetic and non-social environmental factors (like the womb environment) contribute to the causality of sexual orientation and/or attraction.

There is little if any scientific evidence which supports the proposition that social environmental factors (like culture, parenting) play any role in the causality of sexual orientation and/or attraction, said Mr Ongs lawyers.

One of the sources cited by Dr Cai is a study by Bailey, J.M., Vesey, P.L., Diamond, L.M., Breedlove, S.M., Villian, E,M & Epprecht, M. (in press), titled Sexual orientation controversy, and science, Psychological Science in the Public Interest, 2016, Vol 17(2) 45-101 summarises the position, which details the following:

No causal theory of sexual orientation has yet gained widespread support. The most scientifically plausible causal hypotheses are difficult to test. However, there is considerably more evidence supporting non-social causes of sexual orientation than social causes.

This evidence includes the cross-culturally robust finding that adult homosexuality is strongly related to childhood gender non-conformity; moderate genetic influences demonstrated in well sampled twin studies; the cross-culturally robust fraternal birth order effect on male sexual orientation; and the finding that when infant boys are surgically and socially changed into girls, their eventual sexual orientation is unchanged (i.e., they remain sexually attracted to females).

In contrast, evidence for the most commonly hypothesized social causes of homosexuality sexual recruitment by homosexual adults, patterns of disordered parenting, or the influence of homosexual parents is generally weak in magnitude and distorted by numerous confounding factors.

Citing Dr Cais report, the lawyers argued that it can be inferred that Dr Cais findings align with those of Dr Rajesh, who posited that biological and non-social environmental factors influence sexual orientation, and that [e]vidence for the most commonly hypothesised social causes of homosexuality have generally been debunked.

First, Dr Cai states that [s]exual orientation is no unchanging in everyone, and cites studies showing that some individuals have been found to experience spontaneous and naturally-occurring changes in sexual orientation, as opposed to willful changes.

Second, Dr Cai does not cite any literature or study supporting the proposition that sexual orientation can be willfully changed, such as through sexual orientation change efforts, conversion therapy or reparative therapy.

Mr Ongs lawyers also argued that Dr Cai has offered no credible evidence that sexual orientation can be willfully changed.

Studies showing that some individuals experience spontaneous and naturally occurring change in sexual orientation is nothing to the point, they argued, citing two reasons, namely:

i) spontaneous and naturally-occurring change is not willful change as demonstrated by the literature cited by Dr Cai himself; and

(ii) the studies show that close to 100% of homosexual males do not experience even any spontaneous or natural change.

Secondly, said Ongs lawyers, the literature cited by Dr Cai himself supports the point that persons do not experience choice over their sexual orientation and/or sexual attraction.

Ongs legal team added that the literature cited by Dr Cai demonstrates that there is no credible evidence for the purported effectiveness of conversion therapy, reparative therapy, and other forms of intervention to change sexual orientation are effective, which have been known present a significant risk of harm to individuals undergoing such interventions.

Genetics and other biological factors, including non-social environmental factors, contribute strongly to the development of sexual orientation

Another source cited by Dr Cai is a study by Roselli, C.E. titled Neurobiology of Gender Identity and Sexual Orientation, published in Journal of Neuroendocrinology, 2018, which states the following:

Most people experience little or no sense of choice about their sexual orientation. There Is no scientifically convincing research to show that therapy aimed at changing sexual orientation (ie, reparative or conversion therapy) is safe or effective. The origin of sexual orientation is far from being understood, although there is no proof that it is affected by social factors after birth. On the other hand, a large amount of empirical data suggests that genes and hormones are important regulators of sexual orientation

The data summarised in the present review suggest that both gender identity and sexual orientation are significantly influenced by events occurring during the early developmental period when the brain is differentiating under the influence of gonadal steroid hormones, genes and maternal factors. However, our current understanding of these factors is far from complete and the results are not always consistent

Our current understanding suffers from many limitations in the data Despite these limitations, the existing empirical evidence makes it clear that there is a significant biological contribution to the development of an individuals identity and sexual orientation.

Ongs lawyers pointed out thatDr Cai accepted the proposition that it is not disputed by experts in the field that genetics has some contribution to the causation of homosexuality.

Secondly, the lawyers highlighted that Dr Cai cited, in approval, papers which conclude that there can be little doubt that [sexual orientation] is influenced by environmental factors.

The environmental factors referred to by the papers cited by Dr Cai are non-social environmental factors such as the womb environment, not social environmental factors, Mr Ongs legal team highlighted, adding that Dr Cai has already cited various studies and literature pointing to genetic and non-social environmental factors of sexual orientation.

Dr Cai, according to the lawyers, also cited studies indicating that hormones play a part in the causation of sexual orientation, and the fraternal birth order effect play a role in shaping a persons sexual orientation.

Mr Ongs lawyers also rejected Dr Tays assertion that cultural and social environmental factors are also likely to play a role in determining sexual orientation, as the expert has cited no material that supports such an assertion.

This assertion is also demonstrably false, Mr Ongs lawyers argued.

The closed High Court hearing on Mon was the second out of three cases to be presented against Section 377A this month.

The current cases, according to a statement by Mr Ongs legal team, set a precedent in examining legal questions on the nature of sexual orientation, as expert evidence is now presented before the courts.

Previously, the court was only asked to take judicial notice of scientific facts which required a different legal test, Mr Ongs legal team added.

The AGC began its submissions on Mon, and will conclude its submissions at the next hearing on Wed.

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Section 377A constitutional challenge: Expert evidence reveal sexual orientation cannot be changed at will, lawyers argue - The Online Citizen

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Video Captures Australian Woman Braving Brushfire To Save Injured Koala – KFI AM 640

An Australian woman risked her own life when she saw an injured koala trying to escape the flames of a major brushfire. The woman, who was not identified, jumped out of her car and rushed over to save the injured animal. She took off her shirt and used it to wrap up the marsupial as she carried it away from the flames.

Once she brought the koala to safety, she poured water over it to wash away some of the soot from the fire. A male passenger in her car grabbed a blanket and wrapped it around the wet koala so they could transport it to a nearby animal hospital.

Hundreds of wildfires are burning across Australia, threatening the local wildlife populations. The intense flames have made it nearly impossible for rescue workers to go in and move the animals to safety. One of the fires spread to the Lake Innes Nature Reserve, which is a well-known habitat for koalas, which number between 50,000 and 100,000. Officials fear that over 350 koalas perished in the fire.

In NSW, the firestorms ripped through, and they burnt everything. So koalas caught up in trees had no chance of survival, unfortunately," Claire Smith, founder of Wildlife Rescue Sunshine Coast, told Yahoo News Australia. The loss of that volume of animals is going to dramatically affect the genetic diversity of the species over the next 20 years.

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The Women’s Health Issue That’s Finally Starting to Get Recognition – Worth

Long overlooked, menopause starts to get noticed as doctors and entrepreneurs see a market ripe for disruption.

Women are desperate to figure out why they dont feel good. By the time they come to see me, theyve been dismissed so many times, says Heather Hirsch, lead physician of Brigham and Womens Hospitals Menopause and Midlife clinic, set to open early next year. When we think about womens health, we talk about puberty, pregnancy and postpartum. The menopause transition is really important, and it gets no attention.

Hirsch, 37, is part of a new generation of doctors, tech developers and investors determined to change that, and aiming to replace stigma with public conversation, better medical research and more accessible training. Research for treatment of common symptoms like hot flashes, low libido, sleep disruption and weight gain is notoriously underfunded, they note, even as an estimated 38 million American women are menopausal and account for approximately 20 percent of the American work force.

The lack of medical research is coupled with a lack of clinical training, even for gynecologists.

In many family medicine, internal medicine and OB/GYN residency programs, there is perhaps an hour of instruction on menopause, at best, says Stephanie Faubion, medical director of the North American Menopause Society (NAMS) and director of the Mayo Clinic Center for Womens Health, where she co-authored the report Menopause Management Knowledge in Postgraduate Family Medicine, Internal Medicine, and Obstetrics and Gynecology Residents.

Anna Barbieri

Frustrated by misconceptions and shame surrounding the topic, doctors have found new ways to communicate with the women they say are deeply underserved. Hirsch has her own podcast series, Health by Heather Hirsch, with accessible and irreverent segments like Perimenopause, what the HEL! [sic]. In New York, a new telemedicine start-up called Elektra Health is recruiting doctors like Anna Barbieri and hosting frequent salon discussions with titles like Hormonal Harmony: Thriving in Perimenopause and Beyond.

Its important to provide current and valid information about symptoms and their management, and to discuss how this phase of life is so strongly related to other health factors, says Barbieri, 46, an assistant clinical professor of OB/GYN at Mount Sinai. We know, for example, that the time of menopause marks an increase in cardiovascular risk, diabetes risk and risk of dementia for women. How can we optimize this transition, and by doing so optimize other aspects of health? Menopause can vary widely from woman to woman, and were interested in how to practice patient-centered medicine based in evidence and rational treatments.

A reasonable approach, to be sure, but one hampered by myths and misunderstandings.

Among them, Hirsch says, is the fear of hormone replacement, largely stemming from media reporting on the early closure of a 2002 Womens Health Initiative study. That study, which examined one combined oral dose of estrogenand progesteronein a population of women whose average age was 63.5, was widelyandincorrectly interpreted as indicating that the hormones led to a significant increase in the risk of breast cancer and heart attacks.

WHI was an incredible research study with lots of information, but it was a skewed population of older, non-symptomatic women, Hirsch says. When the media spun the results, it made a huge impact in most peoples mind that estrogen is dangerous and harmful, and this idea is still very much ingrained into society.

Today, NAMS-trained providers say that hormone therapy, given to symptomatic women within 10 years of menopause (typically starting in their 50s), often has benefits.

Recent studies, Hirsch notes, say that women who take estrogen and progesterone within 10 years of menopause have a tendency to live longer, die less from all causes and have less heart disease. These are results from several large clinical trials ofdifferent preparations ofhormone therapy in women who start within 10 years of their last menstrual period.

Even when women are willing to take hormones, they are often confused about the best sources, struggle to find well-informed doctors and are susceptible to marketing of unregulated, compounded hormones, Hirsch says.

The compounded hormone therapy industry is extremely profitable, as they are preying off the insecurities of patients and then providers who are otherwise uncomfortable discussing the risks and benefits of FDA-approved hormone therapy, with the risks being overestimated, she notes. There are approximately 15 million women on hormone therapy, of which about two-thirds use unregulated and one-third use FDA-approved medications. However, this number could be larger if there are women using compounded HT we cannot account for. Therein lies another risk of inadequate education and counseling: women taking unregulated HT with the idea that it is safer.

Theres confusion, too, about how to use and source supplements like Chasteberry and Vitex, which some women take for PMS and irregular periods; silymarin, which supports liver function; and melatonin and valerian, which may help with sleeplessness and anxiety.

I find that the use of supplements in the U.S. can be controversial and polarizing, similar to hormone therapy, with many sharing either the extreme view that no FDA oversight means that herbs and supplements are mostly ineffective and can be dangerous, and others believing the opposite, that anything that is natural is safer and gentler than regular medications, says Barbieri. I fall in the middle and believe we should apply regular scientific principles to both drugs, many of which have botanical origins, and herbs/supplements.

This fraught climate, investors say, is ripe for growth.

Last year, market research firm Frost & Sullivan predicted that the market for femtechtechnology products that focus on female wellness, everything from reproductive health to general wellnesswill be $50 billion by 2025.

Jill Angelo

Women control the majority of healthcare dollars spent, and are so influential in their spending power, but I was really taken by the lack of attention to womens health in the second half of life, says former Microsoft executive Jill Angelo, 46. This is a huge opportunity, and in terms of how much is capitalized or consumed, were just getting started.

In September 2016, Angelo launched the online platform Gennev, initially focused on selling hygiene products geared toward easing menopausal symptoms. With her partner Jacqueline Brandwynne, a retired Neutrogena executive, Angelo has branched out to providing services to its 16,000 registered users. It now offers $35 telemedicine appointments with NAMS-certified physicians and a $10 monthly subscription to unlimited consultations with health coaches, dietitians and nutritionists specifically trained to counsel menopausal women. Gennev currently partners with physicians in 30 states and expects to cover all 50 states and the District of Columbia by the end of 2020.

We interviewed 1,500 women, and they said, I have no idea who to go see. My doctor brushes me off, Angelo says. Were still growing our product line into dietary supplements but have also expanded to telemedicine and on-demand coaching. Theres a lot you can do from a lifestyle perspective to alleviate symptoms.

Amy Domangue

Amy Domangue, cofounder and CEO of the virtual medical care aggregator Jessie, calls Angelo a pioneer. The opportunity for virtual care for menopause and perimenopause is finally giving women a place so they know exactly where to turn. The way our healthcare system works is outdated, Domangue says. We have primary care and OB/GYN doctors, but what if instead of general doctors you have specialists uniquely trained to your gender and age? How can we segment healthcare better, so people know where to turn?

And while some women in their 50s and 60s may be wary of virtual visits, Domangue and other menopause entrepreneurs predict the approach will soon become normalized.

Alessandra Henderson

Telemedicine has been around for a very long time, so the technology itself is nothing new, but user behavior is very much a consideration. How do you onboard women in a way that feels comfortable and natural and that builds trust from the get-go? As we grow over time, and continue to get more women on to the platform, well continue to see more digitally native women join, says Alessandra Henderson, 34, the cofounder and CEO of Elektra Health, a new company set to debut telemedicine services in 2020, starting with a beta test group of 30 women in New York state.

Elektras model is to focus on building a virtual care practice with a dedicated care team of gynecologists on staff.We believe dedicated Elektra providers trained in our proprietary care protocol is the best way to deliver an optimal customer experience, real healthcare results, as well as to foster a long-term relationship over the seven-to-10-year menopause journey, says Henderson. Another focus for Henderson: fostering community and accountability.

Elektra checks in regularly with women in the first week, month and beyond on not only their health goals but also their symptoms. Well then use that information to inform their next meeting with the gynecologist. We also plan to add women to private, curated groups for support and accountability, she says. One hundred percent of women go through this. Its nothing to be ashamed about. Its a natural, universal experience. We want to give women the tools to live really well during this time.

This perspective is long overdue, says Faubion, noting that despite the fact that most menopausal women will suffer symptoms, theres not a great deal of new research. One area that does look promising: phase three trials on drugs inhibiting receptors in the hypothalamus that are linked to brain pathways responsible for hot flashes and night sweats. They block the NK3 receptors believed to be in the hot flash neural pathway, but an exact mechanism hasnt been determined, Faubion explains.

Doctors emphasize that menopause should also be assessed in terms of how it may relate to other health issues, particularly cardiovascular disease and dementia.

There is basically a disruption in brain energy metabolism during the menopausal transition linked to decline in estrogen, Barbieri says, adding that the decline can leads symptoms like insomnia, disturbed sleep, hot flashes, depression and short-term memory impairment. It is this metabolic change, as well as recognized vascular changes that occur with menopause, including the impact on the brains vascular system, that may be linked to higher risk of dementia for women.

Ideally, Barbieri says, technology will help researchers target womens symptoms more precisely.

Id love to see research that focuses more on precision medicine for menopause and the choice of intervention based on ones particular genetic makeup and individual situation. That could translate to different types of medicines, dosing or modalities, she says. Id also love to see more research devoted to non-pharmaceutical approaches, including natural and mind-body approaches.

These are exactly the possibilities inspiring entrepreneurs like Elektras Henderson.

The more women that we treat, the faster we can help identify what is and is not going to work, she says. We have a lot of independent research studies on diet, acupuncture and meditation, but we are aiming to build an incredibly rich data set to help informwith hard, science-based evidencewhat has helped treat symptoms, as well as what are best practices.

An indispensable guide to finance, investing and entrepreneurship.

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Are We Pretending Donald Trump Wasnt Secretly Rushed to the Hospital? – The Root

Pick one: Donald Trump was rushed to the hospital to visit a sick child because he is such a caring person... Or Donald Trump is the only president in history to break their physical examinations into two parts Or Donald Trump and the White House staff is lying.

Only one of those makes sense.

Trump is famous for eschewing presidential protocol, for instance, winning the popular vote; hiring competent people; and not soliciting Americas sworn enemies to undermine American democracy. But previously, he had adhered to the tradition of announcing the presidential physical and placing it on his public schedule.

But on Saturday, something strange happened.

Even though a letter from a quack physician reportedly called him the healthiest individual ever elected to the presidency, on Saturday, a presidential motorcade took Trump to Walter Reed National Military Hospital for an unannounced screening, according to NBC. Unlike his two previous exams, this surprise exam wasnt on his public schedule and no oneeven the staff at the hospitalseemed to know about it.

Furthermore, the medical visit came only nine months after Trumps last examination. Accompanied by the presidential physician and a weird yellow envelope attached to his curiously bulging coat, the colostomy bag of presidents insisted that he was visiting a sick child and undertaking an unprecedented two-part exam.

CNN reports:

His two previous physical exams in office were announced ahead of time by the White House and noted on his daily public schedule, but a source with knowledge of the matter told CNN Saturday that the Presidents unannounced trip to the medical center was not even on the Presidents internal schedule as of Saturday morning.

The Presidents motorcade drove to the medical center unannounced, with reporters under direction not to report his movement until they arrived Saturday at Walter Reed. Trump typically takes the Marine One helicopter to Walter Reed, but on Saturdays clear-skied day, the President opted for the motorcade.

Aside from intelligence briefings that usually includeand this is not a jokecolors and stories, Trumps calendar was cleared all day Saturday, Sunday and Monday.

While speculating on medical issues is an ill-advised practice, The Root has spoken with several medical professionals who offered a number of diagnoses, including:

While the impromptu medical visit reportedly took two hours, sources say that 45 minutes was spent in the hospital waiting room as the president read knock-knock jokes and staged a valiant but unsuccessful attempt at connecting the dots in the latest issue of Highlights magazine.

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Are We Pretending Donald Trump Wasnt Secretly Rushed to the Hospital? - The Root

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12 Anti-Aging Tips That Really Work – Newsmax

As many of us stretch out our working years and delay retirement, there's one investment you should be considering investing in your health.

"Without health, your life will have little joy," says Dr. Gabe Mirkin, an anti-aging pioneer who says that the secret of youth centers on how you treat your mind and body today. "Don't wait until it's too late to recover your health. Begin now by exercising every day, eating the right foods and avoiding obesity."

Dr. Robert Goldman, M.D. is the co-founder of the American Academy of Anti-Aging Medicine and is one of America's biggest advocates for physical fitness. He's listed in the Guinness Book of World Records for many fitness achievements, including 13,500 consecutive sit-ups and 321 consecutive handstand pushups.

"The earlier your start on your anti-aging program, the better," he tells Newsmax.

2019 NewsmaxHealth. All rights reserved.

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What is a C-Section? Everything You Need to Know About the Procedure – Glamour

In the United States one third of women give birth by cesarean (aka C-section), a surgical procedure whereby your baby is delivered via an incision in your abdomen and uterus.

For being such a common (and medically necessary) procedure, people have a lot of feelings about ityou might have heard that its worse, a shameful alternative to delivering vaginally. Theres a lot of mommy shaming that occurs around C-sections, but the truth is C-sections can be a safer alternative for both mom and babyit all depends on your pregnancy and your history.

Since knowledge is power, we asked doctors to help explain when C-sections are typically used, what happens during the procedure, what recovery after a C-section looks like, and how they compare to vaginal births.

Its true that you can schedule a C-section to avoid having to worry about going into labor. Sometimes the hardest part of labor and vaginal delivery is the uncertainty, says Ashely Brant, D.O., an ob-gyn at the Cleveland Clinic. Its important for all parties to be flexible and open to changing the plan as labor unfolds.

Thats not lazy. There are a lot of medically valid reasons that your doctor might recommend going this route, says Costa Sousou, M.D., chair of the department of obstetrics and gynecology at Mayo Clinic Health System. Some of the reasons your doctor might suggest planning a C-section:

You have a condition called placenta previa.

Placenta previa is a condition that occurs when the placenta, an organ that develops during pregnancy to provide your baby with nutrients, covers the cervix (the tissue that connects your vagina to your uterus and opens during labor). That can lead to severe bleeding during pregnancy and delivery, says Sousou, meaning a C-section can be the safer alternative.

Youre pregnant with twins or triplets.

Depending on the babies positioning, a C-section may be the safer option.

Youve had a C-section before.

If you had a C-section with a previous delivery, there can be a small increased risk of uterine rupture (if you have prior uterine scars), explains Tajh R. Ferguson, M.D., an ob-gyn at Beth Israel Deaconess Medical Center in Boston.

Of course, just because you had a C-section once doesnt mean its 100% certain youll need to have one again. Deciding whether you want to schedule a repeat C-section or if you want to try vaginally calls for very individualized counseling with your physicianmuch of which is driven by patient preference if all else is healthy, Ferguson says.

Your baby is breech.

If your baby is not head-down (maybe hes butt-down, i.e., breech), vaginal delivery is dangerous if not impossible. Your doctor can try a procedure to turn the baby's head down, but if that doesnt work, a C-section may be the only option.

You have a history of trauma.

In rare cases, women may want to avoid vaginal delivery due to other circumstances, for example, a history of sexual assault that makes vaginal exams very difficult, says Brant. In cases like these, the patient should have a thorough discussion with her doctor about the risks and benefits of elective C-section."

Of course, there are plenty of scenarios for which your doc might order an unexpected C-section too. Some of those situations include:

Babys heartbeat dropping (which may indicate fetal distress).

Youre not progressing in labor (read: pushing for a long time without any progress).

Your doctor is worried about your health or your babys health. Oftentimes multiple factors contribute to the decision to have a C-section, says Brant. A doctor will recommend a C-section if the risks of vaginal delivery are thought to outweigh the risks of C-section.

If youre lined up for a C-section, first a nurse will prep you for the operation in an operating room, putting an IV in your arm or hand so that you can get fluids and medications such as antibiotics during the surgery.

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Clomid dosage post cycle – How to use keyword planner youtube – How much does it cost to have a baby with insurance in texas – Laughlin Entertainer

Clomid dosage post cycle - How to use keyword planner youtube - How much does it cost to have a baby with insurance in texas  Laughlin Entertainer

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Is There A Clinical Benefit To Asymptomatic Thyroid Function Screening? – MedicalResearch.com

MedicalResearch.com Interview with:

Dr. Richard Birtwhistle, ProfessorDepartments of Family Medicine and Community Health and EpidemiologyDirector of the Centre for Studies, Primary Care, Department of Family MedicineQueens University

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

Response: Testing for thyroid dysfunction is a commonly done by primary care practitioners. While the Thyroid stimulating hormone (TSH) test is an easy blood test to perform results outside the normal range are often found and will revert to normal over time without treatment in patients without symptoms.

We wanted to see if there was any clinical benefit to patients by screening for thyroid dysfunction.

MedicalResearch.com: What are the main findings? What are the potential harms of over-testing for thyroid dysfunction?

Response: We did a systematic review of studies related to screening for thyroid dysfunction. We found no trials of screening for thyroid dysfunction. We analyzed studies (19 randomized trials and 3 cohort studies) of treatment of apparently screen detected patients. We looked for differences in mortality (total and cardiovascular), cardiovascular events (fatal and nonfatal MI, atrial fibrillation), fractures, thyroid specific quality of life, cognitive function and some intermediate outcomes such as blood pressure and cholesterol. Overall, the studies found no differences in these outcomes.

The potential harms of screening for thyroid dysfunction are related to the need for patients to have repeated followup blood tests, medical appointments and potentially unnecessary lifelong treatment. These potential harms can result in unnecessary worry for the patient, and use of resources (time and money) for both patients and the single payer health system.

We did not do any formal assessment of cost benefit because there appears to be no clinical benefit to patients.

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

Response: We found several gaps in knowledge.

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

Response: The task force uses the GRADE approach to assessing the evidence and making recommendations. No members of the working group had competing interests and one member of the task force reported developing an educational video on thyroid dysfunction but did not vote on the

Citation:

Recommendation on screening adults for asymptomatic thyroid dysfunction in primary care

Richard Birtwhistle,Kate Morissette,James A. Dickinson,Donna L. Reynolds,Marc T. Avey,Francesca Reyes Domingo,Rachel RodinandBrett D. Thombs;for the Canadian Task Force on Preventive Health Care

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Last Modified: Nov 18, 2019 @ 5:54 pm

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

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New Data From First Human Crispr Trials Shows Promising Results – Forbes

Rendered Cas9

Results from clinical trials released Tuesday indicate that two patients, one with beta thalassemia and one with sickle cell disease, have potentially been cured of their diseases. The two trials, which involved using Crispr to edit the genes of the patients in question, were jointly conducted by Vertex Pharmaceuticals and CRISPR Therapeutics.

This is the first clinical evidence to demonstrate that Crispr/Cas9 can be used to cure or potentially cure serious genetic illnesses, Jeffery Leiden, CEO of Vertex, told Forbes. It's a remarkable scientific and medical milestone.

Vertex Pharmaceuticals CEO Jeffery Leiden

Crispr/Cas9 is a gene-editing system popular for its ability to snip, repair or insert genes into DNA. The therapies tested in the clinical trials work by extracting bone marrow stem cells from the patients, editing these stem cells to fix the genetic mutations that cause the diseases, and then infusing the cells back into the patients. The patients body then takes over and is able to produce new, healthy cells. Engineering of the cells is done ex vivo (outside of the patients body). This allows the researchers to make sure the correct changes are made and there are no improper edits to the genome.

CTX001, the gene-editing therapy used in these trials, is very surgical in how it makes the change, says David Altshuler, Vertexs chief scientific officer.

It has been nine months since the patient with beta thalassemia received the one-time-only treatment and over four months for the patient with sickle cell disease. In that time, both of their conditions have improved tremendously, Leiden says. The patient with beta thalassemia, who used to undergo more than 16 blood transfusions each year, hasnt needed an infusion since the treatment. The patient with sickle cell disease experienced an average ofseven excruciating health crises per year before the treatment, and since the treatment hasnt experienced any.

Despite the fact that these results have only been seen in two patients, says Samarth Kulkarni, CEO of CRISPR Therapeutics, the effect is so dramatic in these patients that we cant help but think this brings a lot of promise.

CRISPR Therapeutics CEO Sam Kulkarni

Both patients suffered side effects during the treatment, but doctors concluded they were caused by the bone marrow preparation, not the Crispr treatment itself. In order to infuse healthy stem cells, both patients had to undergo intensive chemotherapy to destroy their old bone marrow cells. This treatment, also common for bone cancer patients, can cause nausea, hair loss and organ damage.

Precision medicine is known for its hefty price tag, and this treatment is the zenith of precision medicine, Kulkarni says. Yet when asked about potential cost of the treatment, Kulkarni says that they are still focusing on clinical development and it is too early to contemplate any sort of pricing discussions." Zolgensma, the first FDA approved gene-therapy medication, was priced at $2.1 million last May.

The applications of Crispr seem limitless, but the field has encountered several ethical controversies. Last year, Chinese scientist He Jiankui shocked the medical community by announcing that he had altered the genes of two human children. One of the main worries that researchers have about Crispr is that scientists might alter genes to be inherited, a practice called germline engineering. In a recent article on the anniversary of Hes revelation, Crispr pioneer Jennifer Doudna called for stricter regulations for using Crispr in heritable human genome editing.

But germline editing isnt a concern in these trials, where only somatic, or non-reproductive cells, were altered. People are much more concerned about intentional changes to a persons DNA that could be passed down to their descendants, says Henry Greely, a Stanford law professor and chairman of the California Advisory Committee on Human Stem Cell Research. When it comes to somatic cells, they die with the person," he says.

In addition to following these initial patients for the next two years to see if their diseases reoccur, Leiden says theyre enrolling multiple patients with both diseases for the next phase of the clinical trial and will be starting treatments for those patients in the near future. While they dont yet have a timeline on when the treatment will be commercially available, we want to get this to patients as soon as possible, he says.

See the rest here:
New Data From First Human Crispr Trials Shows Promising Results - Forbes

Recommendation and review posted by Bethany Smith

BRIEF-CRISPR Therapeutics And Vertex Announce Data From Two Patients Treated With Gene-Editing Therapy CTX001 – Reuters

Nov 19 (Reuters) - CRISPR Therapeutics AG:

* CRISPR THERAPEUTICS AND VERTEX ANNOUNCE POSITIVE SAFETY AND EFFICACY DATA FROM FIRST TWO PATIENTS TREATED WITH INVESTIGATIONAL CRISPR/CAS9 GENE-EDITING THERAPY CTX001 FOR SEVERE HEMOGLOBINOPATHIES

* CRISPR THERAPEUTICS - 2 SERIOUS ADVERSE EVENTS OCCURRED, NEITHER OF WHICH THE PRINCIPAL INVESTIGATOR CONSIDERED RELATED TO CTX001 Source text for Eikon: Further company coverage:

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BRIEF-CRISPR Therapeutics And Vertex Announce Data From Two Patients Treated With Gene-Editing Therapy CTX001 - Reuters

Recommendation and review posted by Bethany Smith

Co-creator of CRISPR lectures about future applications of genome editing technology – Daily Bruin

A University of California professor and co-originator of genome editing technology Clustered Regularly Interspaced Short Palindromic Repeats said researchers plan to expand the technology in order to increase human applications at a campus lecture series Thursday.

Jennifer Doudna, a UC Berkeley biochemistry professor, engaged students and the greater UCLA science community during the quarterly Donald J. Cram Distinguished Lecture series.

The Cram lecture series, a quarterly departmental event, invites prominent academics in the field of chemistry to speak about their research. The series is dedicated to Donald J. Cram, who was a Nobel laureate and a chemistry professor at UCLA for over 50 years.

This fall, the series was hosted by UCLA chemistry professor and Cram Chair Patrick Harran.

Scientists use CRISPR technology, formally known as CRISPR-Cas9, to modify DNA sequences and gene functions. Cas9 is a protein that can cut the strands of DNA-like molecular scissors.

CRISPR is studied and used by students, scientists and researchers to advance progress in the field of gene editing, in medicine and the life sciences.

The UC holds the largest CRISPR patent portfolio in the nation with 16 total patents, according to a UC Berkeley press release.

The United States Patent and Trademark Office granted the UC, along with the University of Vienna and Emmanuelle Charpentier, the director of the Max Planck Institute for Infection Biology, its 16th patent in October.

Doudnas involvement in CRISPR technology began around 2005, when a professor at UC Berkeley, Jill Banfield, invited Doudna to help her with research into the mechanism. From there, Doudna teamed up with Charpentier, who was working with a CRISPR system and its associated protein, Cas9, in 2011.

Doudna is one of the creators of the CRISPR utility for the permanent excision of harmful genes. Doudna said that she developed the idea for the CRISPR technology in 2011 in collaboration with Charpentier.

During the lecture, Doudna detailed how scientists regulate CRISPR enzymes to modify DNA.

CRISPR is a portion of the bacterial genomic sequence that acts as an adaptive immune system, Doudna said.

Bacteria encode the CRISPR system through viral infections, which allows its genome to recognize foreign DNA insertions. These DNA sequences incorporate themselves into the bacterial genome at the CRISPR locus, a genetic database of past infections.

Doudna said this locus was of unique interest to her.

Those sequences, called CRISPR, are transcribed in RNA molecules that provide the zip codes for Cas proteins, allowing them to recognize foreign DNA and cut it up, Doudna said.

Doudna and Charpentier, with the assistance of their team, were able to realize that CRISPR RNA is a 20-nucleotide sequence, which interacts with DNA in a complementary fashion.

This complementarity allows the protein to form a double-stranded break in DNA, necessitating a second RNA tracrRNA to form this functional unit, Doudna said.

And it was (biochemist) Martin Jinek in our lab who figured out that you could combine these two RNAs into a single guide RNA, Doudna said.

From this experiment, Jinek found that single guide RNAs were used by Cas9 to excise DNA at specific sites in a plasmid, a circular piece of bacterial DNA. The revelation from this was that, upon excision, DNA would repair itself in animals and plants, Doudna said.

Doudna said at the end of her talk that the system is becoming increasingly important in the field of medicine, and is currently being used at UCLA, by Donald Kohn, a professor of microbiology, immunology and molecular genetics.

Were within about five years, maybe less, from being able to make, essentially, any change to any genome in any type of cell, Doudna said.

Doudna stressed that this ability to make changes in the genome comes with bioethical responsibility for genome editing in humans.

Fourth-year biochemistry student Jeremy Shek, who attended the event, said although he had done a project that was an offshoot of CRISPR, he had not heard of the progress Doudna discussed.

It is important to be informed on advancements and progress in the field, he added.

Fourth-year bioengineering student Timothy Yu said he came to the lecture to see Doudna in person and get a more solid grasp on the methodology of CRISPR.

Lexi Omholt, a fourth-year microbiology, immunology and molecular genetics student, said that she came to the talk to understand the basis of CRISPR technology.

Jennifer Doudna was one of the reasons I chose my major, Omholt said. At that time, CRISPR came into popular knowledge, and the knockout tool was just coming into use. I am involved in a cancer lab, the Soragni Lab, that uses CRISPR-Cas9 on a regular basis.

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Co-creator of CRISPR lectures about future applications of genome editing technology - Daily Bruin

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E-CRISPR could be used to rapidly detect viruses – BioNews

18 November 2019

Researchers claim thatCRISPR could be used to detect dangerous viruses in a drop of blood within an hour.

The team at Case Western Reserve University in Cleveland, Ohio, harnessed CRISPR's precision to identify and quantify viruses in human samples, including serum from blood. Their technique, named E-CRISPR, could offer a robust, accurate and cost-effective way to enable faster diagnoses of infections such as parvovirus which can cause miscarriages and human papillomavirus (HPV) which is associated with some cancers.

'This could someday become a simple, accurate and cost-effective point-of-care device for identifying different nucleic acid viruses, such as HPV or parvo from a single droplet of a blood sample,' said first author Yifan Dai, a PhD candidate at Case Western. 'And it would also be extremely fast.'

HPV and parvovirus are both DNA viruses, and their genomic material will be present in the blood of an infected person. E-CRISPR uses a CRISPR RNA strand to bind target sequences which are unique to the virus, and when attached, the associated Cas12a (also known as Cpf1) enzyme cuts the viral DNA in the same way as it would in CRISPR/Cas9 genome editing.

However, unlike Cas9, Cas12a is known to indiscriminately cut single-stranded DNA (ssDNA) once activated by the double-stranded target in this case the viral sequence. The researchers usedssDNA strands, tethered at one end to a sensor and with an electrochemical tag molecule at the other to detect if this cut has been made. If Cas12a is activated, these ssDNA strands are cut, detaching the tag molecules and the electrochemical current detectable through the sensor drops, giving an observable result.

'The CRISPR technique works so that it cuts all of the non-specified single-strand DNA around it once the target is recognised, so we program to electrochemically probe this activity,' said Dai. 'No virus no cutting, it's that simple. And the opposite is true: If CRISPR starts to cut, we know the virus is present.'

The researchers hope that this method could be further developed to create a new 'universal biosensing' device able to accurately detect viruses quickly at the point-of-care, similar to existing blood-glucose sensors. Currently, systems that detect HPV and parvovirus take days to process.

The study was published in Angewandte Chemie, a journal of the German Chemical Society.

Read the original here:
E-CRISPR could be used to rapidly detect viruses - BioNews

Recommendation and review posted by Bethany Smith

CRISPR Therapeutics and Vertex Announce Positive Safety and Efficacy Data From First Two Patients Treated With Investigational CRISPR/Cas9…

-Two patients treated with CTX001 successfully engrafted and demonstrated an initial safety profile consistent with myeloablative busulfan conditioning and autologous hematopoietic stem cell transplant-

-Beta thalassemia: Patient is transfusion independent with total hemoglobin level of 11.9 g/dL and 10.1 g/dL fetal hemoglobin at nine months after CTX001 infusion-

-Sickle cell disease: Patient is free of vaso-occlusive crises with total hemoglobin level of 11.3 g/dL and 46.6% fetal hemoglobin at four months after CTX001 infusion-

-CRISPR Therapeutics will host a conference call today at 8:00 a.m. ET to review these data-

ZUG, Switzerland and CAMBRIDGE, Mass. and BOSTON, Nov. 19, 2019 (GLOBE NEWSWIRE) -- CRISPR Therapeutics(NASDAQ: CRSP) and Vertex Pharmaceuticals Incorporated (NASDAQ: VRTX) today announced positive, interim data from the first two patients with severe hemoglobinopathies treated with the investigational CRISPR/Cas9 gene-editing therapy CTX001 in ongoing Phase 1/2 clinical trials. One patient with transfusion-dependent beta thalassemia (TDT) received CTX001 in the first quarter of 2019 and data for this patient reflect nine months of safety and efficacy follow-up. One patient with severe sickle cell disease (SCD) received CTX001 in mid-2019 and data for this patient reflect four months of safety and efficacy follow-up. These studies are ongoing and patients will be followed for approximately two years following infusion. Several additional patients have been enrolled and have had drug product manufactured across the two studies.

Transfusion-Dependent Beta Thalassemia The patient with TDT has the 0/IVS-I-110 genotype and required 16.5 transfusions per year (annualized rate during the two years prior to consenting for the study) before enrolling in the clinical study. The patient achieved neutrophil engraftment 33 days after CTX001 infusion and platelet engraftment 37 days after infusion. Two serious adverse events (SAEs) occurred, neither of which the principal investigator (PI) considered related to CTX001: pneumonia in the presence of neutropenia and veno-occlusive liver disease attributed to busulfan conditioning; both subsequently resolved. At nine months after CTX001 infusion, the patient was transfusion independent and had total hemoglobin levels of 11.9 g/dL, 10.1 g/dL fetal hemoglobin, and 99.8% F-cells (erythrocytes expressing fetal hemoglobin).

Sickle Cell Disease The patient with SCD experienced seven vaso-occlusive crises (VOCs) per year (annualized rate during the two years prior to consenting for the study) before enrolling in the clinical study. The patient achieved neutrophil and platelet engraftment 30 days after CTX001 infusion. Three SAEs occurred, none of which the PI considered related to CTX001: sepsis in the presence of neutropenia, cholelithiasis, and abdominal pain, all of which resolved. At four months after CTX001 infusion, the patient was free of VOCs and had total hemoglobin levels of 11.3 g/dL, 46.6% fetal hemoglobin, and 94.7% F-cells (erythrocytes expressing fetal hemoglobin).

We are very encouraged by these preliminary data, the first such data to be reported for patients with beta thalassemia and sickle cell disease treated with our CRISPR/Cas9 edited autologous hematopoietic stem cell candidate, CTX001, said Samarth Kulkarni, Ph.D., Chief Executive Officer of CRISPR Therapeutics. These data support our belief in the potential of our therapies to have meaningful benefit for patients following a one-time intervention. We continue to enroll these studies as we drive forward to develop CRISPR/Cas9 therapies as a new class of transformative medicines to treat serious diseases.

The data we announced today are remarkable and demonstrate that CTX001 has the potential to be a curative CRISPR/Cas9-based gene-editing therapy for people with sickle cell disease and beta thalassemia, said Jeffrey Leiden, M.D., Ph.D., Chairman, President and Chief Executive Officer of Vertex. While the data are exciting, we are still in the early phase of this clinical program. We look forward to continuing to work with physicians, patients, caregivers and families over the coming months and years to bring forward the best possible therapy for these two serious diseases and to continue to accelerate our gene-editing programs for other serious diseases such as Duchenne muscular dystrophy and myotonic dystrophy type 1.

About the Phase 1/2 Study in Transfusion-Dependent Beta ThalassemiaThe ongoing Phase 1/2 open-label trial, CLIMB-Thal-111, is designed to assess the safety and efficacy of a single dose of CTX001 in patients ages 18 to 35 with TDT. The study will enroll up to 45 patients and follow patients for approximately two years after infusion. Each patient will be asked to participate in a long-term follow-up study. Enrollment is ongoing at six clinical trial sites in the United States, Canada and Europe.

About the Phase 1/2 Study in Sickle Cell DiseaseThe ongoing Phase 1/2 open-label trial, CLIMB-SCD-121, is designed to assess the safety and efficacy of a single dose of CTX001 in patients ages 18 to 35 with severe SCD. The study will enroll up to 45 patients and follow patients for approximately two years after infusion. Each patient will be asked to participate in a long-term follow-up study. Enrollment is ongoing at 12 clinical trial sites in the United States, Canada and Europe.

About the Gene-Editing Process in These TrialsPatients who enroll in these studies will have hematopoietic stem and progenitor cells collected from peripheral blood. The patients cells will be edited using the CRISPR/Cas9 technology. The edited cells, CTX001, will then be infused back into the patient as part of a stem cell transplant, a process which involves, among other things, a patient being treated with myeloablative busulfan conditioning. Patients undergoing stem cell transplants may also encounter side effects (ranging from mild to severe) that are unrelated to the administration of CTX001. Patients will initially be monitored to determine when the edited cells begin to produce mature blood cells, a process known as engraftment. After engraftment, patients will continue to be monitored to track the impact of CTX001 on multiple measures of disease.

CRISPR Therapeutics Conference Call and WebcastCRISPR Therapeutics will host a conference call and webcast today at8:00 a.m. ET. The webcast and presentation will be made available on the CRISPR Therapeutics website at https://crisprtx.gcs-web.com/events in the Investors section under Events and Presentations. Following the live audio webcast, a replay will be available on the Company's website for approximately 30 days.

Dial-In InformationLive (U.S. / Canada): (800) 895-3361Live (International): (785) 424-1062Conference ID: 87198237

About CTX001CTX001 is an investigational ex vivo CRISPR gene-edited therapy that is being evaluated for patients suffering from TDT or severe SCD in which a patients hematopoietic stem cells are engineered to produce high levels of fetal hemoglobin (HbF; hemoglobin F) in red blood cells. HbF is a form of the oxygen-carrying hemoglobin that is naturally present at birth and is then replaced by the adult form of hemoglobin. The elevation of HbF by CTX001 has the potential to alleviate transfusion requirements for TDT patients and painful and debilitating sickle crises for SCD patients.

CTX001 is being developed under a co-development and co-commercialization agreement between CRISPR Therapeutics and Vertex.

About the CRISPR-Vertex Collaboration CRISPR Therapeutics and Vertex entered into a strategic research collaboration in 2015 focused on the use of CRISPR/Cas9 to discover and develop potential new treatments aimed at the underlying genetic causes of human disease. CTX001 represents the first treatment to emerge from the joint research program. CRISPR Therapeutics and Vertex will jointly develop and commercialize CTX001 and equally share all research and development costs and profits worldwide.

About CRISPR TherapeuticsCRISPR Therapeutics is a leading gene editing company focused on developing transformative gene-based medicines for serious diseases using its proprietary CRISPR/Cas9 platform. CRISPR/Cas9 is a revolutionary gene editing technology that allows for precise, directed changes to genomic DNA. CRISPR Therapeutics has established a portfolio of therapeutic programs across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine and rare diseases. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic collaborations with leading companies including Bayer AG, Vertex Pharmaceuticals and ViaCyte, Inc. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Cambridge, Massachusetts, and business offices in London, United Kingdom. For more information, please visit http://www.crisprtx.com.

CRISPR Therapeutics Forward-Looking StatementThis press release may contain a number of forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including statements regarding CRISPR Therapeutics expectations about any or all of the following: (i) the safety, efficacy and clinical progress of CRISPR Therapeutics CTX001 clinical program; (ii) the status and scope of ongoing and potential future clinical trials (including, without limitation, the timing of filing of clinical trial applications and INDs, any approvals thereof and the timing of commencement of clinical trials), development timelines and discussions with regulatory authorities related to product candidates under development byCRISPR Therapeuticsand its collaborators; (iii) the number of patients that will be evaluated, the anticipated date by which enrollment will be completed and the data that will be generated by ongoing and planned clinical trials, and the ability to use that data for the design and initiation of further clinical trials; v(iv) the intellectual property coverage and positions ofCRISPR Therapeutics, its licensors and third parties; (v) the sufficiency of CRISPR Therapeutics cash resources; and (vi) the therapeutic value, development, and commercial potential of CRISPR/Cas9 gene editing technologies and therapies.Without limiting the foregoing, the words believes, anticipates, plans, expects and similar expressions are intended to identify forward-looking statements.You are cautioned that forward-looking statements are inherently uncertain. AlthoughCRISPR Therapeuticsbelieves that such statements are based on reasonable assumptions within the bounds of its knowledge of its business and operations, forward-looking statements are neither promises nor guarantees and they are necessarily subject to a high degree of uncertainty and risk. Actual performance and results may differ materially from those projected or suggested in the forward-looking statements due to various risks and uncertainties. These risks and uncertainties include, among others:the potential for initial and preliminary data from any clinical trial (including CTX001) not to be indicative of final trial results; the risk that the initial data from a limited number of patients (as is the case with CTX001 at this time) may not be indicative of results from the full planned study population;the outcomes for each CRISPR Therapeutics planned clinical trials and studies may not be favorable; that one or more of CRISPR Therapeutics internal or external product candidate programs will not proceed as planned for technical, scientific or commercial reasons; that future competitive or other market factors may adversely affect the commercial potential for CRISPR Therapeutics product candidates; uncertainties inherent in the initiation and completion of preclinical studies for CRISPR Therapeutics product candidates; availability and timing of results from preclinical studies; whether results from a preclinical trial will be predictive of future results of the future trials; uncertainties about regulatory approvals to conduct trials or to market products; uncertainties regarding the intellectual property protection for CRISPR Therapeutics technology and intellectual property belonging to third parties, and the outcome of proceedings (such as an interference, an opposition or a similar proceeding) involving all or any portion of such intellectual property; and those risks and uncertainties described under the heading "Risk Factors" in CRISPR Therapeutics most recent annual report on Form 10-K, and in any other subsequent filings made byCRISPR Therapeuticswith theU.S. Securities and Exchange Commission, which are available on theSEC'swebsite atwww.sec.gov. Existing and prospective investors are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date they are made.CRISPR Therapeuticsdisclaims any obligation or undertaking to update or revise any forward-looking statements contained in this press release, other than to the extent required by law.

About VertexVertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has four approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency, and APOL1-mediated kidney disease. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes. For company updates and to learn more about Vertex's history of innovation, visit http://www.vrtx.com or follow us on Facebook, Twitter, LinkedIn, YouTube and Instagram.

(VRTX-GEN)

Vertex Special Note Regarding Forward-Looking StatementsThis press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, the information provided regarding the status of, and expectations with respect to, the CTX001 clinical development program. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release, and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include that the development of CTX001 may not proceed due to safety, efficacy or other reasons, and other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with theSecurities and Exchange Commissionand available through the company's website atwww.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

CRISPR Therapeutics Investor Contact:Susan Kim, +1 617-307-7503susan.kim@crisprtx.com

CRISPR Therapeutics Media Contact:Jennifer PaganelliWCG on behalf of CRISPR+1 347-658-8290jpaganelli@wcgworld.com

Vertex Pharmaceuticals IncorporatedInvestors:Michael Partridge, +1 617-341-6108orZach Barber, +1 617-341-6470orLeah Gibson, +1 617-961-1507

Media: mediainfo@vrtx.com orNorth America:Heather Nichols, +1 617-341-6992Heather_Nichols@vrtx.com

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CRISPR Therapeutics and Vertex Announce Positive Safety and Efficacy Data From First Two Patients Treated With Investigational CRISPR/Cas9...

Recommendation and review posted by Bethany Smith

BUZZ-U.S. STOCKS ON THE MOVE-Retail stocks, CRISPR Therapeutics, Slack Technologies – Nasdaq

Eikon search string for individual stock moves: STXBZ

The Day Ahead newsletter: http://tmsnrt.rs/2ggOmBi

The Morning News Call newsletter: http://tmsnrt.rs/2fwPLTh

The S&P 500 and the Dow Jones indexes retreated from record levels on Tuesday as dour forecasts from Home Depot and Kohl's eroded confidence that the U.S. consumer will support the economy. .N

At 12:23 p.m. ET, the Dow Jones Industrial Average .DJI was down 0.28% at 27,957.31. The S&P 500 .SPX was unchanged at 3,121.96 and the Nasdaq Composite .IXIC was up 0.34% at 8,578.962. The top three S&P 500 .PG.INX percentage gainers: ** Broadcom Inc AVGO.O, up 3 % ** Constellation Brands Inc STZ.N, up 2.5 % ** Biogen Inc BIIB.O, up 2.3 % The top three S&P 500 .PL.INX percentage losers: ** Kohl's Corp KSS.N, down 18.1 % ** Macy's Inc M.N, down 9.6 % ** Home Depot Inc HD.N, down 5.2 % The top three NYSE .PG.N percentage gainers: ** Myovant Sciences Ltd MYOV.N, up 84.8 % ** JinkoSolar Holding Co Ltd JKS.N, up 13 % ** 58.Com Inc WUBA.N, up 12.8 % The top three NYSE .PL.N percentage losers: ** Intelsat SA I.N, down 21.8 % ** Kohl's Corp KSS.N, down 18.1 % ** AeroCentury Corp ACY.N, down 12.9 % The top three Nasdaq .PG.O percentage gainers: ** SAExploration SAEX.O, up 78.5 % ** Karuna Therapeutics Inc KRTX.O, up 39.2 % ** Athenex Inc ATNX.O, up 33.2 % The top three Nasdaq .PL.O percentage losers: ** KLX Energy Services Holdings Inc KLXE.O, down 25.3 % ** Pioneer Power Solutions Inc PPSI.O, down 22.3 % ** My Size Inc MYSZ.O, down 19.8 % ** Home Depot Inc HD.N: down 5.2% ** Kohl's Corp KSS.N: down 18.1% ** Macy's Inc M.N: down 9.6% ** Nordstrom Inc JWN.N: down 5.2% ** Lowe's Companies Inc LOW.N: down 0.8% BUZZ-Home Depot: Falls after FY sales forecast cut, drags Lowe's BUZZ-Kohl's: Falls on FY profit forecast cut, Q3 same-store sales miss BUZZ-Retail stocks tumble on Home Depot, Kohl's dour forecasts

** CRISPR Therapeutics AG CRSP.O: up 17.9% ** Vertex Pharmaceuticals Inc VRTX.O: up 2.0% ** Editas Medicine Inc EDIT.O: up 11.2% ** Intellia Therapeutics Inc NTLA.O: up 12.3% ** Sangamo Therapeutics Inc SGMO.O: up 4.8%

BUZZ-Gene editing therapy makers rise on promising early results from CRISPR, Vertex BUZZ-Street View: Early data from CRISPR, Vertex gene editing therapy herald era of potential cures ** Slack Technologies Inc WORK.N: down 9.6%

BUZZ-Slack Technologies: Falls on user growth of Microsoft's Teams

** AMC Entertainment Holdings Inc AMC.N: up 2.9% ** Cinemark Holdings Inc CNK.N: up 1.2%

BUZZ-Court scraps 'Paramount' antitrust decrees, cinema operators rise ** Karuna Therapeutics Inc KRTX.O: up 39.2%

BUZZ-Karuna launches stock offering after positive schizophrenia study results BUZZ-Karuna spikes to fresh post-IPO high after successful schizophrenia study ** Kornit Digital Ltd KRNT.O: down 1.6%

BUZZ-Kornit Digital Ltd: Falls after Q3 results disappoint ** Therapix Biosciences Ltd TRPX.O: up 8.8%

BUZZ-Therapix Biosciences jumps on potential takeover deal ** Broadcom Inc AVGO.O: up 3.0%

BUZZ-Morgan Stanley names chipmaker Broadcom its new top pick, upgrades to 'overweight' ** SAExploration Holdings Inc SAEX.O: up 78.5%

BUZZ-SAExploration more than doubles on $130 mln new projects ** JinkoSolar Holding Co Ltd JKS.N: up 13.0%

BUZZ-JinkoSolar Holding: Rises on upbeat Q3 results ** Ellington Financial Inc EFC.N: down 2.9%

BUZZ-Ellington Financial Inc: Falls after discounted stock offering ** ServiceNow Inc NOW.N: up 4.9%

BUZZ-ServiceNow rises on gaining entry to S&P 500, to replace Celgene ** Duke Energy Corp DUK.N: down 1.7%

BUZZ-Duke Energy Corp: Down after pricing stock offering ** MSG Networks Inc MSGN.N: down 5.1%

BUZZ-MSG Networks: Slides after Guggenheim downgrades on challenging contract renewals ** Medtronic Plc MDT.N: up 0.4%

BUZZ-Medtronic: Gains after company raises 2020 forecast on Q2 beat ** Intelsat SA I.N: down 21.8%

BUZZ-Intelsat: JP Morgan says private auction "officially dead", sets Street-low PT ** Myovant Sciences Ltd MYOV.N: up 84.8%

BUZZ-Myovant Sciences: Jumps after prostate cancer therapy succeeds late-stage trial ** Methanex Corp MEOH.O: down 4.6%

BUZZ-Methanex Corp: TD Securities cuts to "hold" ** Boeing Co BA.N: down 0.3%

BUZZ-Boeing: Drops as NTSB calls for redesign of part on 737 planes ** Dicerna Pharmaceuticals Inc DRNA.O: up 12.3%

BUZZ-Street View: Dicerna adds muscle with Novo Nordisk partnership ** AT&T Inc T.N: down 5.2%

BUZZ-AT&T Inc: Slips as Moffett Nathason doubts 2020 revenue target achievability ** Personalis Inc PSNL.O: up 2.6%

BUZZ-Personalis gains on tie-up with Germany's Merck over cancer therapies ** TJX Companies Inc TJX.N: up 2.3%

BUZZ-TJX a bright spot in gloomy day for retail ** CNS Pharmaceuticals Inc CNSP.O: up 7.5%

BUZZ-CNS Pharma up on acquiring rights to Berubicin for brain cancer treatment ** Progyny Inc PGNY.O: up 7.8%

BUZZ-Fertility benefits manager Progyny blooms as IPO banks bullish ** ConocoPhillips COP.N: up 1.1%

BUZZ-ConocoPhillips: Rises on 2020-2029 plan, $50 bln FCF target ** Gogo Inc GOGO.O: up 7.1%

BUZZ-Gogo rises as Qatar Airways picks co to install in-flight connectivity ** DHT Holdings Inc DHT.N: down 5.7%

BUZZ-DHT Holdings falls on discounted secondary stock offering ** Chefs' Warehouse Inc CHEF.O: down 7.9%

BUZZ-Chefs' Warehouse shares scorched on convertible debt deal plans ** Altria Group Inc MO.N: down 2.1%

BUZZ-Altria Group shares hit as New York AG sues Juul Labs ** PG&E Corp PCG.N: down 3.0%

BUZZ-PG&E Corp warns over 300,000 customers of possible power cut, shares fall ** 58.com Inc WUBA.N: up 12.8%

BUZZ-China's 58.com Inc rises on Q3 revenue, profit beat ** Roku Inc ROKU.O: down 2.7%

BUZZ-Roku snaps 7-day win streak on share sale plan ** Cabaletta Bio Inc CABA.O: up 25.3%

BUZZ-Cabaletta Bio Inc: Hits record high as Street starts coverage with 'buy' ** Orchard Therapeutics Plc ORTX.O: up 0.4%

BUZZ-Orchard Therapeutics: European regulator cuts review time for nervous system disorder drug

The 11 major S&P 500 sectors:

Communication Services

.SPLRCL

down 0.32%

Consumer Discretionary

.SPLRCD

down 0.75%

Consumer Staples

.SPLRCS

down 0.35%

Energy

.SPNY

down 0.93%

Financial

.SPSY

up 0.27%

Health

.SPXHC

up 0.49%

Industrial

.SPLRCI

down 0.09%

Information Technology

.SPLRCT

up 0.37%

Materials

.SPLRCM

down 0.33%

Real Estate

.SPLRCR

up 0.09%

Utilities

.SPLRCU

down 0.09%

(Compiled by Akanksha Rana in Bengaluru)

The views and opinions expressed herein are the views and opinions of the author and do not necessarily reflect those of Nasdaq, Inc.

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BUZZ-U.S. STOCKS ON THE MOVE-Retail stocks, CRISPR Therapeutics, Slack Technologies - Nasdaq

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CRISPR Therapeutics among healthcare gainers; Plus Therapeutics leads the losers – Seeking Alpha

Gainers:Myovant Sciences (NYSE:MYOV)+143%. Karuna Therapeutics (NASDAQ:KRTX) +34%. Athenex (NASDAQ:ATNX)+32%. CRISPR Therapeutics (NASDAQ:CRSP)+21%. The Medicines Company (NASDAQ:MDCO)+19%.

Losers:Plus Therapeutics (NASDAQ:PSTV) -11%. STRATA Skin Sciences (NASDAQ:SSKN) -10%. ThermoGenesis Holdings (NASDAQ:THMO) -8%. resTORbio (NASDAQ:TORC) -7%. Iterum Therapeutics (NASDAQ:ITRM) -7%.

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CRISPR Therapeutics among healthcare gainers; Plus Therapeutics leads the losers - Seeking Alpha

Recommendation and review posted by Bethany Smith

Another step closer to curing cancer and genetic diseases: All you need to know about CRISPR-Cas9 – Firstpost

Imagine if you had a technology that could give you superpowers. No, we are not talking about gamma rays or radioactive spiders but something pretty similar. If youve watched Marvels Luke Cage series, you may have heard of a gene-editing tool called CRISPR. The protagonist gets super strength and unbreakable skin when a mollusc DNA was fused into his DNA.

As bizarre as it may sound, CRISPR-Cas9 (the shorter and more colloquial name is CRISPR) is a real thing and it can selectively cut and paste DNA pieces from and to your DNA. Though the plan for this tool does not include creating super soldiers. Instead, scientists believe that CRISPR-Cas9 could be a ray of hope for those suffering from inherited genetic disorders like down syndrome, cystic fibrosis and thalassemia.

Representational image. Image source: Getty Images.

The technology isnt just theoretical anymore. A study, to be presented next month at a meeting of the American Society of Hematology, conducted on three cancer patients to test the safety of the tool has shown promising results. And it isnt the only one - more studies are recruiting and being conducted to bring gene editing to life.

CRISPR (pronounced Crisper) is an acronym for Clusters of Regularly Interspaced Short Palindromic Repeats. The Cas9 stands for a CRISPR-associated protein 9.

Nature has quipped bacteria with an ability to protect itself from invading viruses. When a virus attacks a bacterium, viral DNA gets embedded in the bacterium's DNA. This creates a new element within the bacterial DNA called CRISPR. If the same virus then attacks the bacterium again, it uses CRISPR to identify the virus.

CRISPR does this by creating RNA - a molecule that carries messages out from the DNA to the rest of the cell. The RNA is the one that identifies the viral DNA invading the cell (or bacteria).

Then, the Cas9 present in the bacteria chops off the invading virus' DNA, thus neutralising the threat.

The new gene-editing tool for humans is based on this same concept. This innovative tool was, rather unimaginatively, then named CRISPR-Cas9.

The gene-editing tool CRISPR-Cas9 is a bit different from its bacterial version. It contains a small chain of RNA along with Cas9, instead of DNA. This cuts out one step of the bacterial process.

CRISPR-Cas9 could be really helpful for those suffering from genetic diseases. A genetic disease happens due to glitches in the DNA sequence. They usually begin inside the fetus when all your body cells are still dividing. Every time a cell divides, its DNA divides along with it to send a copy of the genome into the new cell. But, a fault can sometimes happen in the copying process. This can alter the complete genetic code, creating a mutation - which leads to genetic disease.

This is where CRISPR-Cas9 comes in. The RNA in the tool identifies the "error" in the genetic code. It then binds with the faulty part of the DNA. Cas9 then cuts off that faulty piece.

The original version of the CRISPR-Cas9 tool would only find and cut out the error in the DNA. This creates a gap in the DNA code, which needs to be 'repaired'. The original tool couldn't do so, and would thus necessarily leave the repair process up to the cell. The cell would either join the broken ends of the DNA or insert a new piece to fill the void. Clearly, while this gets rid of the anomaly in the cell, what happens to the genetic code afterwards wasn't in the tool's control. This made the outcome uncertain.

With the new version of the CRISPR-Cas9 tool, scientists can now take control of the repair process as well. We can now add an entirely new DNA sequence of our choice in the removed region and not just fix an anomaly but even introduce new traits into the organism. Think of this as a find-replace tool in your word editor, as opposed to just the find(-delete) tool.

Currently, there is no cure for genetic diseases. CRISPR-Cas9 is a promising step forward. Scientists have already used it to treat some diseases in plants and animals.

Health articles in Firstpost are written by myUpchar.com, Indias first and biggest resource for verified medical information. At myUpchar, researchers and journalists work with doctors to bring you information on all things health. For more information, please read our article onHemophilia, a genetic condition which prevents blood from clotting.

Updated Date: Nov 15, 2019 14:21:41 IST

Tags : CRISPR, CRISPR-cas9, Gene Slicing, Gene-Editing, Genetic Diseases, Genetic Disorders, NewsTracker

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Another step closer to curing cancer and genetic diseases: All you need to know about CRISPR-Cas9 - Firstpost

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A Rare Genetic Disorder Turned These Siblings’ Blood ‘Milky’ White – Livescience.com

A rare genetic disorder caused three siblings' blood to flood with fat and turn "milky" white, according to a new report of the unusual case.

The three siblings consisted of one set of fraternal twins (a daughter and son) and an older son, all born to a first-cousin couple in a Pennsylvania Dutch family. In their teens and early 20s, all three siblings experienced mysterious symptoms, including bouts of abdominal pain. They had all been diagnosed with hypertriglyceridemia, a fairly common disorder that causes fatty molecules called triglycerides to build up in the blood.

Now in their 50s, the siblings recently underwent genetic testing and learned that they have a condition that's much more rare, affecting only 1 in every million people, according to the case report, published today (Nov. 18) in the journal Annals of Internal Medicine.

Those with the ultrarare disorder, known as familial chylomicronemia syndrome (FCS), may accumulate more than 1,000 milligrams of triglycerides per deciliter (mg/dL) of blood. For comparison, normal blood levels of the fat should fall below 150 mg/dL, and 500 mg/dL would be considered "very high" in a healthy person, according to the National Institutes of Health.

Indeed, in people with FCS, blood fat levels are so high that the normally crimson fluid turns the color of milk. (FCS is not the only condition that can cause milk-colored blood; the symptom may also appear in people with severe hypertriglyceridemia.)

Related: The Color of Blood: Here Are Nature's Reddest Reds (Photos)

The three siblings had long struggled to keep their triglyceride levels under control and suffered frequent inflammation of the pancreas, also known as pancreatitis a serious condition that can cause abdominal pain, fever and vomiting. At the hospital, the male twin's triglyceride levels reached as high as 5,000 mg/dL, while the other brother's levels peaked at around 6,000 mg/dL. The female twin's triglyceride levels soared highest of all, reaching 7,200 mg/dL at maximum.

The siblings hoped their doctors could help subdue those aggressive symptoms.

To confirm the sibling's rare diagnosis, the doctors looked to their patients' genes. Triglycerides typically build up in the blood due to multiple malfunctioning genes and other related health conditions, such as diabetes or high-blood pressure, according to the Journal of the American Board of Family Medicine. But when doctors probed the siblings' genetic code, the researchers spotted only one mutated gene that was key for breaking down triglycerides in the body.

In healthy people, the gene contains instructions to build a protein called lipoprotein lipase (LPL), which typically coats the blood vessels that run through muscles and fatty tissues in the body, according to the Genetics Home Reference. LPL breaks down fats carried in the blood; without an adequate supply, the siblings' blood plasma ran thick with excess triglycerides.

Related: How to Speak Genetics: A Glossary

Each sibling carried two copies of the mutated LPL gene, meaning both their parents passed down the mutated genetic code to the children, the case report noted. What's more, the particular genetic mutation in the siblings had never been seen before, the authors said. The doctors placed the siblings on a fat-restricted diet, which successfully stabilized their triglyceride levels and quelled their bouts of pancreatitis. Sometimes, when triglyceride levels spike, doctors must manually replace the fat-filled blood of their patients with healthy blood from donors, Live Science previously reported. Thankfully, the siblings' condition could be curtained with diet alone.

Originally published on Live Science.

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A Rare Genetic Disorder Turned These Siblings' Blood 'Milky' White - Livescience.com

Recommendation and review posted by Bethany Smith

Transgender people who agree with using terms ‘men’ and ‘women’ too afraid to speak out, tribunal hears – The Telegraph

She said: It is also fair to say that there are another minority of trans people who agree with me that the terms biological male and biological female are accurate terms but are afraid to speak out because not only is there an extremely toxic debate on Twitter where they are being attacked from both sides. But also, within our community, the idea around gender identity is very intolerant of any dissent.

Ms Harrison, who haslivedas a transgender woman for two decades, said she shares Ms Forstaters gender critical beliefs and has been labelled a "Nazi facilitator" and "scum" for expressing them.

The process of having surgery or hormone treatment cannot ultimately transform your sex, Ms Harrison told the tribinal. Every cell in my body has male chromosomes. I have a prostate. These things cannot be completely deconstructed. It is not possible to be biologically female. But that does not mean I cant live a fulfilling life being treated as a woman.

Writing in her witness statement, Ms Harrison said that attempts to legally coerce society into treating males as females in all circumstances is inevitably doomed to fail.

As Churchill once said, The truth is incontrovertible. Malice may attack it, ignorance may deride it, but in the end, there it is, she added.

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Transgender people who agree with using terms 'men' and 'women' too afraid to speak out, tribunal hears - The Telegraph

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