Category Archives: Genetics

Race, genetics and health: Our ancestry both limits and exacerbates … – Genetic Literacy Project

An Asian American born in Connecticut in 2009 could expect to live89.1 years. An African American, on the other hand, couldexpect to live 77.8 years. Its seldom surprising tosee large discrepancieswhen comparing life expectancies indeveloped and developing nations, considering the vast differences in availablehealth care. But how do we explain such a wide variance between two populations or ethnic groups living in the same region?

The complicated relationship between population, ethnicity and raceand how it impacts our health involves a complex equation offactors,includingmedicine,economics, psychology, anthropology, sociology andgeography. But it also seems clear that there are so-called race-related genetic factors in play .

Cultures and health behaviors

At this point in the history of medicine, there are a handful of behaviors withwell-established health impacts onour health. Among this is tobacco smoking,which has been linked unequivocallyto lung cancer and chronic obstructive pulmonary disease (COPD). Its also associated withcardiovascular and cerebrovascular conditions (leading to high blood pressure, atherosclerosis, heart disease, and strokes), and a host of non-pulmonary cancers. Yet different ethnic groups react differently to prolonged exposure.

Consider that therate of smoking among Native Americans is higher than for any other group in North America, at 26.1 percent, according toAmerican Lung Association. At the other end of the smoking spectrum areAsian Americans, at 9.6 percent, andHispanics at12.1 percent. In the middle areAfrican Americans, 18.3 percent, andCaucasians,19.4 percent.

Source: American Lung Association

Based on smoking rates alone, youd expect Asians and Latinos to have lower lung cancer rates, and they do. However, youd also expect Native Americans to have higher lung cancer rates. Yet their lung cancer rates are only slightly worse thanthose of Latinos. Strikingly, the ethnic group with the highest lung cancer rate is African Americans, according to the Center for Disease Control (CDC).

A similar phenomenon is seen inalcohol use. According to the National Institute of Alcohol Abuse and Alcoholism (NIAAA), the most common drinkers are white males, 74.27 percent, while Asian-American women were the least common, at 36.11 percent. In terms of daily heavy drinking, the highest rates were recorded among Hispanic males, at 40.48 percent, while Asian American men had the lowest rate, at 18.84 percent. Alcohol abuse relates to liver disease, nutritional disorders, and various cancers, but as with smoking the disease rates among ethnic groups do not correlate precisely with consumption.

Black men (25.81 percent)and women (19.02 percent), for example, reported lower rates of daily heavy drinking, when compared to white men and women. Yet, African Americans have a higher risk of developing alcohol-related liver disease, according to the National Institutes of Health.

Health genetics

With majorkillers like heart disease and stroke,there are a multitude of genetic factors, making forcomplex relationships between genetics and disease.For example, despite having a relatively high risk of developing cardiovascular disease, Latinos have alower risk of actually dying from the disease. Thus, studies are constantly underway to examine genetic risk factors and markers. African Americans have a notoriously high rate of high blood pressure compared with other ethnic groups, and for decades there has been a debate regarding whether genetic factors or environmental factors are more important.

What about discrimination?

A potentially troubling possibility has emerged from a University of Florida study that was published in December 2016in thejournal PLOS ONE. By interviewing 157 African American subjects in creative ways, researchers were able to show a relationship between the feeling of discrimination and high blood pressure. The study pointed toeight genetic variants of five genespreviously known to be associated with cardiovascular disease. The cause ofhigh blood pressure iscomplex, given that its related both to physical phenomena such as factors controlling how tightly blood vessels squeeze, as well as psychological factors, since blood pressure rises in nearly everyone when they become anxious or stressed.

Putting all of these factors into a coherent picture of how diseases are generated appears to be a daunting task. Year by year, month by month, the science community is inundated with new data, especiallyfrom genomic studies. Various new instruments are in use too, and yet, when the goal is to assess anything related toethnicity or race, the task grows progressively more difficult.

David Warmflash is an astrobiologist, physician and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.

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Race, genetics and health: Our ancestry both limits and exacerbates ... - Genetic Literacy Project

The Next Pseudoscience Health Craze Is All About Genetics – Gizmodo

Illustration: Angelica Alzona/Gizmodo

Recently, Vitaliy Husar received results from a DNA screening that changed his life. It wasnt a gene that suggested a high likelihood of cancer or a shocking revelation about his family tree. It was his diet. It was all wrong.

That was, at least, according to DNA Lifestyle Coach, a startup that offers consumers advice on diet, exercise and other aspects of daily life based on genetics alone. Husar, a 38-year-old telecom salesman, had spent most of his life eating the sort of Eastern European fare typical of his native Ukraine: lots of meat, potatoes, salt and saturated fats. DNA Lifestyle Coach suggested his body might appreciate a more Mediterranean diet instead.

They show you which genes are linked to what traits, and link you to the research, Husar told Gizmodo. There is science behind it.

DNA Lifestyle Coach isnt the only company hoping to turn our genetics into a lifestyle product. In the past decade, DNA sequencing has gotten really, really cheap, positioning genetics to become the next big consumer health craze. The sales pitcha roadmap for life encoded in your very own DNAcan be hard to resist. But scientists are skeptical that weve decrypted enough about the human genome to turn strings of As, Ts, Cs and Gs into useful personalized lifestyle advice.

Indeed, that lifestyle advice has a tendency to sound more like it was divined from a health-conscious oracle than from actual science. Take, for instance, DNA Lifestyle Coachs recommendation that one client drink 750ml of cloudy apple juice everyday to lose body fat.

Millions of people have had genotyping done, but few people have had their whole genome sequenced, Eric Topol, a geneticist at Scripps in San Diego, told Gizmodo. Most consumer DNA testing companies, like 23andMe, offer genotyping, which examines small snippets of DNA for well-studied variations. Genome sequencing, on the other hand, decodes a persons entire genetic makeup. In many cases, there just isnt enough science concerning the genes in question to accurately predict, say, whether you should steer clear of carbs.

We need billions of people to get their genome sequenced to be able to give people information like what kind of diet to follow, Topol said.

Husar stumbled upon the Kickstarter page for DNA Lifestyle Coach after getting his DNA tested via 23andMe a few years earlier. He wondered whether there was more information to be gleaned from his results. So six months ago, he downloaded his 23andMe data and uploaded it to DNA Lifestyle Coach. Each test costs between $60 and $70.

Im always looking for some ways to learn about my health, myself, my body, said Husar, who contributed to the companys Kickstarter back in 2015.

The advice he got back was incredibly specific. According to DNA Lifestyle Coach, he needed to start taking supplements of vitamins B12, D and E. He needed more iodine in his diet, and a lot less sodium. DNA Lifestyle Coach recommended that 55 percent of his fat consumption come from monounsaturated fats like olive oil, rather than the sunflower oil popular in Ukraine. Oh, and he needed to change his workout to focus more on endurance and less on speed and power.

He switched up his workout and his diet, and added vitamin supplements to his daily routine. The results, he found, were hard to dispute: He lost six pounds, and for the first time in memory didnt spend Kievs long harsh winter stuck with a bad case of the winter blues.

For now, DNA Lifestyle Coachs interpretation engine only offers consumers advice on diet and exercise, but in the coming months it plans to roll out genetics-based guidance on skin care, dental care and stress management. The company wants to tell you what SPF of sunscreen to use to decrease your risk of cancer, and which beauty products to use to delay the visible effects of aging. Its founders told Gizmodo that eventually they envision being able to offer their customers recipes for specific meals to whip up for dinner, optimized for their genetic makeup.

DNA Lifestyle Coach joins a growing list of technology companies attempting to spin DNA testing results into a must-have product. The DNA sequencing company Helix plans to launch an app store for genetics later this year. One of its partners is Vinome, a wine club that for $149 a quarter sends you wine selected based on your DNA. Orig3n offers genetics-based assessments of fitness, mental health, skin, nutrition and evenobviously unscientificwhich superpower you are most likely to have. The CEO of the health-focused Veritas Genetics told Gizmodo that the company hopes to create a Netflix for genetics, where consumers pay for a subscription to receive updated information on their genome for the rest of their life.

Its not going to happen overnight, but we believe that DNA will become an integrated part of everyday life, Helix co-founder Justin Kao told Gizmodo. The same way people use data to determine which movie to see or which restaurant to eat at, people will one day use their own DNA data to help guide everyday experiences.

Few would debate that our capability to decipher information from our genetic code is getting a lot more sophisticated. Just a decade ago, a bargain-basement deal on whole genome sequencing would run you $300,000. Recently, DNA sequencing company Illumina announced plans do it for just $100 within the next decade. Every day, researchers discover new links between our health, our environment, and our genetics.

But much of this research is still preliminary, and many of the studies are small. DNA Lifestyle Coachs advice to drink 750ml of cloudy apple juice for fat loss, for instance, stemmed from a study of just 68 non-smoking men. Those results, while promising, still require much larger studies to confirm. Suggesting that the same regiment might work for consumers is a little like reading the leaves at the bottom of a tea cupextracting meaning from patterns that arent necessarily there.

Not to mention that the information our genes offer up is probabilistic, not deterministic. You may have run into this if youve done an ancestry DNA test and received results indicating that your parents are only very likely your parents. More often than not, many genes contribute to a specific traitlike tasteand how those genes all interact is complex and poorly understood web. To complicate matters further, the expression of genes is often impacted by our behavior and the environment. If you have a gene that raises the risk for skin cancer, but live in overcast Seattle and dont ever go outside, your chances of getting cancer are probably slimmer than someone who lives in Los Angeles and spends every day in the sun without slapping on some sunblock.

DNA Lifestyle Coach, though, wants to offer its customers simple, actionable advice, and so omits all this confusing gray area from its results. Instead, the recommendations are clear and specific, from how much Vitamin A to take to how many cups of coffee a day are most beneficial. Its a bit reminiscent of a long-term weather forecast spitting out predictions for sunshine or rain 30 days in advanceyes, such predictions can be made, but most meteorologists will tell you theyre borderline useless.

We use a series of algorithms which rank studies by reliability of results, the company website explains. Studies are then analyzed for their relation to real-world dietary and nutritional needs, and the user is given straightforward recommendations.

Pressed on the questionable nature of that apple juice study, DNA Lifestyle Coachs founders responded that the data is not as strong as the the other studies it pulls from. But it is a harmless recommendation, the company said.

When asked whether it was possible that DNA Lifestyle Coachs claims might have any validity, Topol laughed.

One day, he said, its likely well have some genomic insight into what types of diets are better suited for certain people. But, he added, its unlikely that we will ever accurately predict the sort of granular details DNA Lifestyle Coach hopes to, like exactly what SPF of sunscreen you should be using on your skin.

There are limits, he said.

DNA Lifestyle Coach was founded by a chemist and a business consultant who met over an interest in the biohacker scene, a subculture focused on ideas like DIY life extension. The company that runs DNA Lifestyle Coach, Titanovo, actually started as a blog. The name is meant to invoke superhumans. Its like the rise of the titans, said Corey McCarren, the business side of the duo, when Gizmodo met with him at a health moonshots conference last month.

Their first foray into genetics was a home telomere length test, which launched in 2015 with help of $10,000 raised on Indiegogo. Telomeres are little bits of DNA at the end of chromosomes. Each time a cell divides, its telomeres get shorter, and so they provide some insight into our biological age. Titanovo wanted to develop an easy test to tell consumers how long or short their telomeres were. The company initially pitched the test as a way to measure both longevity and health, but eventually was forced to clarify for customers that it is not at present possible to discern biological age from telomeres alone, after receiving emails from customers panicked about their own short telomeres.

Instead, they suggest, the $150 telomere testing kit is a way to discern information about health. One finding from their data: vegetarians and vegans who use the service have, on average, longer telomeres. The company recommends going veg if you find your telomeres are in need of a boost. Even this, however, seems like a stretch: data on telomere length, like genomics, is not quite ready for public consumption. For every paper that finds a potential cause of telomere shorting, theres one that finds the opposite effect.

Undaunted by the rocky rollout of its telomere testing kit, Titanovo is now pressing forward into genomics. The Kickstarter campaign for DNA Lifestyle Coach wound up raising more than $30,000. The company says it now has more than 1,000 customers who either pay $215 for the full DNA testing kit along with one panel, or the $60 to $70 to run panels with data from services like 23andMe.

While it might seem harmless to take part in a little science-based superstition and find out whether youre more Batman or Superman, such indulgence can have serious side effects. For years, weve been sold on DNA as the answer to almost everything. Decode the human genome, and decode the mysteries of the human spirit. This gives companies like DNA Lifestyle Coach dangerous authority. If your DNA testing results say youre prone to obesity, why spend time exercising and eating right when your health seems beyond your control?

Joshua Knowles, a Stanford Cardiologist who studies applied genetics, told Gizmodo that he recently had a patient who was unwilling to try a certain class of drug based on their genotyping, even though they had a high risk of heart disease that might be drastically reduced by use of those medications.

Were doing a poor job of educating patients on risk-benefit analysis, Knowles said. In some cases, when it comes to genetics, were placing a lot of weight on some things that have very small overall effects.

In 2008, an European Journal of Human Geneticsarticleargued for better regulatory control of direct-to-consumer genetic testing, asking whether in the end, tests ran the risk of being little better than horoscopes that told people information they were already predisposed to believe.

It was these kinds of concerns that moved the Food and Drug Administration to crack down on 23andMe in 2013, ordering the company to cease providing analyses of peoples risk factors for disease until the tests accuracy could be validated. The company now provides assessments on a small fraction of 254 diseases and conditions it once scanned forit still processes the same information, but is restricted in what it can tell consumers. Where it once reported health risks alongside specific tips and guidance on how to reduce them, it now reports on your carrier status, framing the results in terms of whether you might pass down a specific genetic variant to your offspring rather that whether you might develop the condition yourself.

Companies like DNA Lifestyle Coach have moved in offer the sort of tips 23andMe no longer can.

We have much too many companies doing nutrigenomics and other unproven things like that, said Topol. That can give consumer genomics a really bad name. Thats unfortunate.

Kao, of Helix, said that educating consumers on what these results really mean alongside actionable information will be the industrys greatest challengeand what distinguishes it from just another pseudoscientific health fad.

Its typically been very hard to interpret DNA information, Kao said. DNA is most valuable with context, rather than as the only piece of the puzzle.

The industry, he argues, is young, but will get more accurate the more consumers use DNA-testing products. Just as Netflix improves the more you rate shows you watch, so would many DNA-based products, he said.

Husar told Gizmodo that he got blood work done to confirm what he could about his DNA Lifestyle Coach results. The tests indeed confirmed that he was low on vitamins B12, D and E, as DNA Lifestyle Coach had suggested. Of course, Hussar still cant be sure his genes are responsible. It could be that hes simply not eating enough meat or cheese. Still, the blood work was enough to convince Husar that DNA Lifestyle Coachs analysis was worth taking seriously. And, for the most part, the results felt rightit made sense that a boost of vitamin B12 might counteract the emotional toll of winter, and that cutting out potatoes and saturated fats might be benefical.

The testss fitness results though, he did find a tad shocking.

I was really surprised to learn that Im not fast or powerful, but I have a high endurance, he said. I can do Iron Man. This is what my genetics say. Im trying to change my workout to see if thats true.

Husar may never be sure whether the advice divined from his genetics was really helpful. He can only hope it doesnt hurt.

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The Next Pseudoscience Health Craze Is All About Genetics - Gizmodo

Ovarian Cancer and Genetics – News-Medical.net

Women who have a strong family history of breast or ovarian cancer are more likely to be affected by cancer of the ovaries, fallopian tube, or peritoneal cavity. This is thought to be due to a mutation in one of the genes that are involved in the regulation of cell growth and replication in these areas, which can be inherited from the parents.

It is estimated the 10-15% of ovarian, fallopian tube, or peritoneal cancers are associated with an inherited genetic mutation. The remaining majority of cases of cancer are linked to a genetic mutation that is acquired by the individual in their lifetime.

The BReast CAncer 1 (BRCA1) and BReast CAncer 2 (BRCA2) genes have been identified as genes that are linked to an increased risk of the development of both breast cancer and ovarian cancer. Everybody possesses these genes in their body because they play an important role in the regulation of cell growth in the breasts and ovaries, but a mutation in one or both of these genes increases the likelihood that an individual will be affected by breast or ovarian cancer.

A woman with a mutation in the BRCA2 gene has a lifetime risk of 10-20% of developing ovarian cancer. This is approximately ten times higher that the risk of an average woman, which is 1-2%.

Other genes that have been linked to an increased risk of ovarian cancer include:

There are various genetic conditions that are linked to an increased risk of ovarian cancer development. These include:

For women who have a raised risk of ovarian cancer due to the inheritance of a gene that is linked to causing the condition, there are several steps that can be taken to reduce their risk.

For example, some women may choose to have their ovaries and fallopian tubes to be removed. This helps to reduce the risk of cancer in these areas, as well as the risk of some types of breast cancer due to decreased production of estrogen, which usually occurs in the ovaries. The risk of ovarian cancer can be reduced by 70-96% and the risk of breast cancer by 40-70%.

However, this surgical procedure should not be considered unless a woman is certain that she does not wish to bear any children in the future because the removal of the ovaries will render her infertile.

Genetic testing is available for women with a strong family history of breast or ovarian cancer to detect mutations in the genes that are known to raise the risk of cancer. It is important for patients to be aware of the benefits and negative aspects of being tested before they undergo the examination.

Reviewed by Susha Cheriyedath, MSc

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Ovarian Cancer and Genetics - News-Medical.net

University of Arizona professor: Genetics could help treat heart disease – KTAR.com

PHOENIX Genetics may hold the key to treating heart disease, according to a University of Arizona professor.

Scientists have identified genetic markers that can predict if a person is likely to be diagnosed with heart disease, which is the No. 1 killer for both men and women nationwide.

University of Arizona professorDr. Robert Roberts said since genetic markers do not change throughout a persons life, this new discovery is so far the most accurate method ofpredicting heart disease.

Whileheart disease has been proven to be preventable by decreasing conventional risk factors, such as quitting smoking,about 50 percent of heart disease risk is in a persons genes.

Scientists are developing a genetic test that can find these markers using either blood or saliva, Roberts said, adding in the next few years, they will be able to treat people without symptoms who have genetic risks.

Genetic testing will tell us if you are at risk, he said. If you are at risk [then] we can start treatment immediately.

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Clemson Center for Human Genetics unveils new facility on Greenwood Genetic Center campus – Clemson Newsstand

GREENWOOD Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics, has opened on the campus of the Greenwood Genetic Center.

Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics. Image Credit: Craig Mahaffey / Clemson University

The facility will enable Clemsons growing genetics program to collaborate closely with the long tradition of clinical and research excellence at the Greenwood Genetic Center, combining basic science and clinical care. The center will initially focus on discovering and developing early diagnostic tools and therapies for autism, cognitive developmental disorders, oncology and lysosomal disorders.

Opening Self Regional Hall means that we will be able to do even more to help children with genetic disorders, and their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements.

As the parent of a child with special needs the kind of research that you are doing here is especially meaningful and important to me and my family, Clements said during the event. As you all know, an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.

Jim Pfeiffer (left), president and CEO of Regional Healthcare, and Clemson President James P. Clements unveil a commemorative plaque. Image Credit: Craig Mahaffey / Clemson University

According to the Centers for Disease Control and Prevention, one in six children between the ages of 3 and 17, roughly 15 percent, suffers from a developmental disorder.

Self Regional Hall is a state-of-the-art facility that provides the resources our scientists need to understand the genetic underpinnings of disorders, said Mark Leising, interim dean of the College of Science at Clemson. This facility, and its proximity to the Greenwood Genetic Center, elevates our ability to attract the brightest scientific talent to South Carolina and enhances our efforts to tackle genetic disorders.

The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty.

The facilitys name recognizes the ongoing support from Self Regional Healthcare, a healthcare system in Upstate South Carolina that has grown from the philanthropy of the late James P. Self, a textile magnate who founded Self Memorial Hospital in 1951.

The ribbon-cutting ceremony was originally scheduled for September 2016, but was delayed because of the death of state Sen. John Drummond, an ardent supporter of the Greenwood Genetic Center who helped bring Self Regional Hall to fruition.

Image Credit: Craig Mahaffey / Clemson University

Self Regional Healthcares vision is to provide superior care, experience and value. This vision includes affording our patients with access to cutting-edge technology and the latest in healthcare innovation and genomic medicine, without a doubt, is the future of healthcare, said Jim Pfeiffer, president and CEO of Self Regional Healthcare. The research and discoveries that will originate from this center will provide new options for those individuals facing intellectual and developmental disabilities, and will provide our organization with innovative capabilities and treatment options for our patients.

We are pleased to welcome Clemson University to Greenwood as the first academic partner on our Partnership Campus, added Dr. Steve Skinner, director of the Greenwood Genetic Center. This is the next great step in a collaboration that has been developing over the past 20-plus years. We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders.

END

Greenwood Genetic CenterThe Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.GGCs faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve.GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC, please visitwww.ggc.org.

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Clemson Center for Human Genetics unveils new facility on Greenwood Genetic Center campus - Clemson Newsstand

Sunderland: A heart update when your genetics turn on you – East Idaho News

From the Editor 0Updated at 3:08 pm, February 14th, 2017 By: Nate Sunderland, EastIdahoNews.com We Matched

My son Michael, 10, acting like the genetic test was no big deal. He didnt even flinch when the needle went in. Then he bragged about his bravery for the next several hours.

For the last several months, members of the EastIdahoNews.com team have received a surprising number of inquiries about whether I died following my heart transplant in October.

Im not dead. Obviously.

And since so many of you have asked for an update: Im happy to provide one and on Valentines Day. You know, because of hearts and stuff.

The truth is, not a whole lot has really changed since the transplant. Im still living in Utah in a kind of recovery limbo as my body gradually regains its strength and adapts to this new heart.

Doctors are routinely tweaking my massive dose of daily medications to ensure organ rejection doesnt set in. Its a process that will likely take a year or more.

One of weird parts of constantly tweaking medications is the funky side effects.

For one, I get tremors. I shake and shiver constantly for no apparent reason. I feel temperatures differently. I get random chills and when I touch something semi-hot like getting into a hot shower it initially feels like Im dousing myself in flames. Even just going outside in the sun makes my skin feel like its on fire.

There is also constant tingling in my hands, feet and oddly lips. My wife also says the steroids Im on make me moody and emotional, but Im fairly certain thats not true.

Thankfully, the side effects have been relatively benign for me. There are many transplant patients who have much more severe side effects, so I cant really complain.

The worst part of transplant recovery are the biopsies a process where they stick catheters down through an artery in your neck so they can cut out tiny pieces of your heart to test. Its creepy but fascinating to watch a tiny claw on a monitor cut away at your heart.

This is what a heart biopsy looks like. Thats a very tiny claw poking around my heart, which cuts off millimeter chunks for study. The pieces are pulled through a catheter in my neck. And those wires? Thats where my sternum was wired shut after my transplant surgery.

Biopsies are used to check for organ rejection. I used to get a biopsy weekly, but the further I get from transplant the less often I have to get them. Now I see my doctors a couple of times a month and get a biopsy and a battery of other tests once a month.

Thats mostly it. Besides the tests and appointments, the majority of time is spent working on the internet in my hotel room or at physical therapy where Im striving to regain my muscles.

The only major development that has come out of the last couple months is that I now know what actually caused my initial heart failure.

Jacob, 3, was the most apprehensive about the test and it took me and two nurses to hold him down to draw the blood. There were tears, but it was over quickly.

Not long after my transplant, my wife and I went to my doctor, concerned our three boys might be at risk for heart complications in the future. Physicians told me to get a genetic test.

I was told given the limited research into genetic disorders that cause heart problems, there was only a 20 percent chance the test would find a gene mutation that could cause heart failure. If the test came back negative, it would mean either I didnt have a mutation or that they just couldnt identify one.

Turns out Im one of the lucky (or perhaps unlucky) few to get a positive genetic test.

In technical terms, I have a c. 84482delC (p. Pro28161Leufs*13) mutation in my TTN (pronounced Titan) gene, which caused familial dilated cardiomyopathy, which is inherited person-to-person in an autosomal dominant manner.

Thats about as clear as mud, huh?

In laymans terms everyone has two copies of all their genes one from mom and one from dad. One copy of my TTN gene contains a mutation, causing it to unravel, which resulted in my heart essentially becoming deformed.

As a result of the malformed heart, I ended up in heart failure. When I didnt respond to treatment, I essentially started dying. Thankfully, the transplant saved my life.

The mutation isnt expected to cause me any more problems, since my new heart has a different set of genes. But my children each have a 50 percent chance of the same mutation occurring in their bodies.

Thats a scary thought.

My son Xander, 7, doesnt like needles but he got through the genetic test just fine.

So this last week, we got them tested and are awaiting the results. If any of my children do share the gene mutation, there are things we can do to forestall and treat their hearts to avoid the same situation I find myself in.

But it will be a lifelong change for them with regular heart tests and/or procedures probably forever.

We should get the test results back by the end of the month.

We are keeping our fingers crossed. And in the meantime were taking this recovery day by day.

Again, I want to thank everyone for the continued support. This trial has lasted for months and months now, and although it seems like forever, it does feel like things are gradually returning to normal.

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College of Medicine graduate student launches genetics research startup – Penn State News

HERSHEY, Pa. Olivier Noel is only 28 years old, but hes already changing the face of genetics research.

The Haitian native is in his sixth year of Penn State College of MedicinesMD/PhD Medical Scientist Training Programand was recently recognized by Forbes as one of the countrys brightest young entrepreneurs on its30 Under 30 list in the science industry. Hes the founder of DNAsimple, a startup aimed at accelerating genetics research by connecting DNA donors with research scientists. The company provides scientists with access to critically important samples, significantly speeding up the pace for genetics research.

People dont realize it can take years to get samples, but really only a month to get an assignment done which is a little bit ridiculous, Noel said. Its a problem for geneticists across the board. You can have a million dollars to do a study, but waste three years trying to get samples.

Noel explained a light bulb went off when he attended a genetics conference at the recommendation of Dr. Roger L. Ladda, whom he had been shadowing with the intent of focusing his residency on genetics.

The keynote speaker at the conference was talking about how he was studying a disease not really prevalent in the Western world, and the way they were able to get a DNA sample to validate was through Facebook. The joke at the time was that Facebook is the new way of doing genetics. I realized, wow, that worked well for one case but thats not the way science should get done, Noel said.

Noels big break was when the company was accepted into the Y Combinator program, which includes such notable alumni as Dropbox, Airbnb and Reddit. DNAsimple was one of 32 companies accepted from more than 6,500 applicants worldwide, he said. But he credits his doctoral advisors former Penn State faculty member Dr. Glenn S. Gerhard and Penn State College of Medicine Chair of Biochemistry and Molecular BiologyJames Broach for teaching him about genetics and exposing him to the Penn State Institute for Personalized Medicine.

Learn more about Noel and his work in this Penn State Medicine article.

Last Updated February 14, 2017

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Athletigen, Kinduct Technologies To Integrate Genetics With Athletic Performance Insights – SportTechie

Sports genetics company Athletigen Technologies is teaming up with Kinduct Technologies, a data and analytics software provider, to integrate genetics with athletic performance data.

Athletigen is known for analyzing an athletes genetic makeup and using that to help the athlete achieve his or her performance goals. Kinduct allows teams and organizations to look at data from multiple athletes and use that to make informed decisions to improve individual performance.

The partnership with Kinduct is an exciting opportunity, with both companies focused on pushing the limits of human performance, Athletigen CEO Dr. Jeremy Koenig said in a statement Tuesday. Clients will now have access to genetic markers combined with performance data, biometric scores and subjective inputs to provide a comprehensive view of the athlete to help understand and improve their in-game performance.

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Before teaming up with Athletigen, Kinducts products collected and analyzed data for a wide range of athletes. Now, there will be an added layer of genetics data.

For Athletigen, this partnership could be a way to expand the brand. Kinduct has established relationships inthe NHL, MLB, NFL, NBA, MLS and NCAA, and now, Athletigens insights in geneticscan reach teams in those leagues as well.

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Athletigen, Kinduct Technologies To Integrate Genetics With Athletic Performance Insights - SportTechie

College of Medicine graduate student launches genetics research start-up – Penn State News

HERSHEY, Pa. Olivier Noel is only 28 years old, but hes already changing the face of genetics research.

The Haitian native is in his sixth year of Penn State College of MedicinesMD/PhD Medical Scientist Training Programand was recently recognized by Forbes as one of the countrys brightest young entrepreneurs on its30 Under 30 list in the science industry. Hes the founder of DNAsimple, a startup aimed at accelerating genetics research by connecting DNA donors with research scientists. The company provides scientists with access to critically important samples, significantly speeding up the pace for genetics research.

People dont realize it can take years to get samples, but really only a month to get an assignment done which is a little bit ridiculous, Noel said. Its a problem for geneticists across the board. You can have a million dollars to do a study, but waste three years trying to get samples.

Noel explained a light bulb went off when he attended a genetics conference at the recommendation of Dr. Roger L. Ladda, whom he had been shadowing with the intent of focusing his residency on genetics.

The keynote speaker at the conference was talking about how he was studying a disease not really prevalent in the Western world, and the way they were able to get a DNA sample to validate was through Facebook. The joke at the time was that Facebook is the new way of doing genetics. I realized, wow, that worked well for one case but thats not the way science should get done, Noel said.

Noels big break was when the company was accepted into the Y Combinator program, which includes such notable alumni as Dropbox, Airbnb and Reddit. DNAsimple was one of 32 companies accepted from more than 6,500 applicants worldwide, he said. But he credits his doctoral advisors former Penn State faculty member Dr. Glenn S. Gerhard and Penn State College of Medicine Chair of Biochemistry and Molecular BiologyJames Broach for teaching him about genetics and exposing him to the Penn State Institute for Personalized Medicine.

Learn more about Noel and his work in this Penn State Medicine article.

Last Updated February 13, 2017

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College of Medicine graduate student launches genetics research start-up - Penn State News

Cocaine addiction a matter of genetics, UBC researchers say – Calgary Herald

Scientists at the University of B.C.have built a better mouse one that is indifferent to cocaine.

Unlike normal mice, the genetically engineered rodents did not show addictive behaviour even after repeated injections of the narcotic over days, suggesting that habitual drug use in humans may be a matter of genetics.

While the finding is unlikely to yield a pill that cures addiction anytime soon, it could lead to a test that identifies who is at greatest risk of addiction and enable people to act on that knowledge, saidShernaz Bamji, the lead author of a study published today by the journal Nature Neuroscience.

The finding provides a biochemical model for addiction based onprevious work at Johns Hopkins University in Baltimore, Md., that found people with genetic mutations associated with a class of proteins in the brain called cadherins are more prone to substance abuse.

Cadherin helps bind cells together and play a role inwhich brain circuits are strengthened during learning even learning that certain drugs deliver pleasure.

Although Bamji had theorized that higher levels of cadherin would lead to more addictive behaviour, the opposite turned out to be true.

To better understand its role, the researchers engineered mice to produce excessive cadherin proteins in their brains.

Bamji and her collaboratorsinjected normal and genetically engineered mice with cocaine and placed them in a distinctly decorated room within a multi-room cage. On alternating days the mice were placed in the other room and injected with saline, said co-author Andrea Globa.

After six days of alternating treatments, the mice wereallowed to move freely to any of the rooms in the cage.

The normal mice greatly preferred the cocaine-associated room, but the high-cadherin mice didnt much care for it, suggesting that the presence of extra cadherin had somehow interfered with the learned response to cocaine.

Normal mice always gravitate to the chamber where they received the drug, looking for that high, but the mutant mice didnt, said Bamji.

The answer to the mysterious result was found inside the membrane of brain cellsthemselves, where cadherin interfered with the ability of a specialized proteinreceptor to functionat the synapse, the point at which neurons communicatewith each other chemically toform memories.

Unable to strengthen the connection between synapses, the brains learning circuitry couldntretaincocaines pleasurable memory.

Addiction is a form of learning in the reward circuits of the brain, she said. Where you dont get synapse strengthening, you arent getting learning and you arent getting addiction.

However, because many synapsesin the brain use the same strategy to learn, a magic bullet or pill for addiction is a long way off.

Simply increasing cadherin would likely prevent (addicts)from learning anything new, she said. Thats not a very good trade-off.

Future research might uncover a protein or enzyme in the brainmore specific to addiction that functions only in the reward circuitry of the brain, which could be a target for medication.

rshore@postmedia.com

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Cocaine addiction a matter of genetics, UBC researchers say - Calgary Herald