A few years ago, one of us (Ian) was lucky enough to be invited to visit the N.I. Vavilov Institute of Plant Industry in St Petersburg, Russia. Every plant breeder or geneticist knows of Nikolai Vavilov and his ceaseless energy in collecting important food crop varieties from all over the globe, and his application of genetics to plant improvement.

Nikolai Vavilov was pilloried because he wasnt a political favourite in Soviet Russia. Library of Congress. New York World-Telegram & Sun Collection

Vavilov championed the idea that there were Centres of Origin (or Diversity) for all plant species, and that the greatest variation was to be found in the place where the species evolved: wheat from the Middle East; coffee from Ethiopia; maize from Central America, and so on.

Hence the Centres of Origin (commonly known as the Vavilov Centres) are where you should start looking to find genotypes the set of genes responsible for a particular trait with disease resistance, stress tolerance or any other trait you are looking for. This notion applies to any species, which is why you can find more human genetic variation in some African countries than in the rest of the world combined.

By the late 1920s, as director of the Lenin All-Union Academy of Agricultural Sciences, Vavilov soon amassed the largest seed collection on the planet. He worked hard, he enjoyed himself, and drove other eager young scientists to work just as hard to make more food for the people of the Soviet Union.

However, things did not go well for Vavilov politically. How did this visionary geneticist, who aimed to find the means for food security, end up starving to death in a Soviet gulag in 1943?

Heroic science?

Enter the villain, Trofim Lysenko, ironically a protg of Vavilovs. The notorious Vavilov-Lysenko antagonism became one of the saddest textbook examples of a futile effort to resolve scientific debate using a political approach.

Lysenkos theories went against the latest science, but prevailed due to politics. Wikimedia

Lysenkos name leapt from the pages of history and into the news when Australias Chief Scientist, Alan Finkel, mentioned him during a speech at a meeting of chief scientists in Canberra this week.

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The Tragic Story Of Soviet Genetics Shows The Folly Of Political Meddling In Science - IFLScience (blog)

By Ben Levisohn

When a stock has been beaten up as badly as Myriad Genetics (MYGN) hasits dropped 57% during the past 12 monthsit doesnt take much to move it higher. So it shouldnt come as too much of a surprise that shares of Myriad are soaring today after the genetic testing company beat earnings forecasts and offered upbeat guidance.

Myriad reported a profit of 26 cents a share, topping forecasts for 24 cents, on revenue of $196.5 million, beating the Street consensus for $190.1 million. Myriad also said it expects to earn between $1 and $1.05 in 2017, ahead of analyst forecasts of 98 cents.

So is the worst over? Maybe, but Cowens Doug Schenkel and team argue that Myriads shares are fairly valued. They explain why:

Myriad remains in a transformation phase and visibility on the revenue growth outlook continues to be limited. For example, there are several key decisions in the next 3 months that could affect Myriads outlook, including: (1) a CMS Editorial review board to review CPT coding for hereditary cancer panels (Feb. 10-11; link); (2) a final Vectra DA CMS reimbursement decision (LCD comment period ends March 23); (3) a final Prolaris LCD intermediate risk decision (comment period ends March 23); and (4) a UHC contract decision for hereditary cancer testing (current contract ends in May).

Although the share price continues to decline, we still believe shares are about fairly valued considering the number of uncertainties across business segments. Relative to peers Myriad still trades at a slight P/E premium, but at a ~30% EBITDA discount.

Shares of Myriad Genetics have jumped 10% to $16.99 at 10:38 a.m. today.

Original post:
Myriad Genetics: Fairly Valued? - Barron's (blog)

Progressing at breakneck speed, genetic engineering has seen significant advancements since the first time Jamie Metzl addressed the topic at the Vail Symposium in 2015 to a sold-out audience. Metzl will return today, offering the latest update on the science and implications of this world-changing technology.

Metzl, an annual speaker at the Symposium, is a senior fellow of the Atlantic Council and an expert on Asian affairs and biotechnology policy. He previously served as executive vice president of the Asia Society, deputy staff director of the U.S. Senate Foreign Relations Committee, senior coordinator for International Public Information at the U.S. State Department, director for multilateral affairs on the National Security Council and as a human-rights officer for the United Nations in Cambodia.

Also a novelist, Metzl explores the challenging issues raised by new technologies and revolutionary science in his science fiction writing. His latest novel, Eternal Sonata, imagines a future global struggle to control the science of extreme human life extension. This world, according to Metzl, is not far off.

Jamie Metzl is a brilliant thinker and eloquent speaker who will be discussing a captivating subject based very much in reality, said Kris Sabel, Vail Symposium executive director. His background in biotechnology allows him to understand this complex science, his experience with international affairs lets him place science in a geopolitical context and his dynamic and creative mind can break it all down into digestible information for everyone

Here, Metzl elaborates on the progress of the genetics revolution, his new book, how this unique science fits into the landscape of technological breakthroughs and how the new administration may impact scientific progress.

VAIL SYMPOSIUM: What sort of progress has the genetics revolution made since you first addressed the issue in front of the Vail Symposium audience two years ago?

METZL: The genetics revolution is charging forward at a blistering, exponentially accelerating pace. Virtually every day, major progress is being made deciphering the genome; describing gene-editing tools to alter the genetic makeup of plants, animals or even humans; and outlining how gene drives can be used to push genetic changes across populations. Even if this rate of change slows, then its absolutely clear to me that these new technologies will transform health care in the short to medium term and alter our evolution as a species in the medium to long term.

VS: Despite your scholarly background on the topic, youve again chosen to use science fiction writing as a way to encompass real issues surrounding the progress in genetics science. How does your new book, Eternal Sonata, based in 2025, two years after the setting of your first genetics thriller, Genesis Code, reflect the true pace, opportunities and consequences of genetic science?

METZL: The genetic revolution is too important to be left only or even primarily to the experts. I write nonfiction articles and spend a lot of time with expert groups, but the general public must be an equal stakeholder in the dialogue about our genetic future. I aspire for my novels to be fun and exciting, but also to help people who might be a little afraid of science find a more accessible on-ramp to thinking about the many complex, challenging human issues associated with technological innovation.

I fully believe well be seeing significant growth in human health and lifespans throughout the coming decades, but this progress will also raise some thorny questions well need to address. Like Genesis Code, its based on real science and tries to explore what it will mean on a human level when new technologies begin to transform our understanding of our own mortality.

VS: How much weight should society put on concerns and opportunities of genetics science, or actually making conscious alterations to humans as a species?

METZL: Advances in genetic technologies will help us live longer, healthier, more robust lives, and we should all be very, very excited about that. Like all technologies, however, there will also be new opportunities for abuse. Thats why we need to have the broadest, most inclusive global dialogue possible to help us develop new norms and standards that can guide our actions going forward. The technologies are new, but the best values we will need to deploy to use them wisely are old.

VS: Has there, then, been any progress in policy to regulate genetics science or legal framework created to limit the radical changes this could have on society?

METZL: There is a real mismatch between the rapid pace of scientific advancement and the glacial pace of regulation. On the one hand, we dont want over-regulation killing this very promising field in its relative infancy. On the other, it is clear that all aspects of altering the human genome must be regulated. This challenge is all the greater because different countries have different belief systems and ethical traditions, so there is a deep need for a global norm-creation and then regulatory harmonization process.

VS: Do you have any insight on how changes in the administration will affect progress in this field of science?

METZL: Many people are worried about how the new administration will deal with these very complex scientific issues. Viewing genetic technologies in the context of the abortion debate would be a significant blow to this work in the United States. But the science is global, and even if the U.S. shuts down all of its labs for ideological or other reasons, then the science will advance elsewhere. Well lose our lead building the future as we wait forever for the coal mining and low-end manufacturing jobs to come back.

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Biotechnology xpert Jamie Metzl addresses realities of genetics revolution, Feb. 9 - Vail Daily News

When scientists first read out the human genome 15 years ago, there were high hopes that wed soon understand how traits like height are inherited. It hasnt been easy. A huge effort to find height-related genes so far only explains a fraction of this trait.

Now scientists say theyve made some more headway. And the effort is not just useful for understanding how genes determine height, but how theyre involved in driving many other human traits.

At first, these problems didnt seem to be so complicated. The 19th-century monk Gregor Mendel discovered that traits in his garden peas, like smoothness and color, could be passed predictably from one generation to the next.

But Joel Hirschhorn, a geneticist at Boston Childrens Hospital and the Broad Institute, says it became evident that most stories of inheritance were not so simple. Height turns out to be a prime example.

Peoples height didnt behave like Mendels peas, Hirschhorn says. It wasnt like they you had two tall people and theyd either have a tall [child] or a short [child]. Often the child was partway between the parents.

Scientists explained this 100 years ago, when they realized that height was influenced by many genes, and each makes a small contribution.

So when the human genome was sequenced, scientists like Hirschhorn thought they could plumb that data to track all the height genes, and finally understand how height and in fact most other human traits are shaped by our genes.

That effort started slowly. But now, Hirschhorn says, For height there are about 700 variants known to affect height, each of them usually with a pretty small effect on height, usually like a millimeter or less.

That massive global effort has involved studying the genes of more than 700,000 volunteer subjects. Even so, the traits theyve found only explain about a quarter of the inherited height factors.

And, frustratingly, for most of those variants scientists have no idea what they actually do.

Mostly the variants crop up in mysterious bits of DNA between genes on our chromosomes. That makes it hard to figure out their roles.

So Hirschhorn and his army of colleagues, who reported on the effort last weekin the journal Nature, tried a new tack.

Their study focused only on variants that are directly in the genes themselves. By knowing that the genes do, they can understand better how variants might influence height. For example, one is in a gene that influences hormones that regulate growth.

The variants within genes are uncommon, but some have a remarkably large influence on height.

We found some that, if you carry them, you might actually be an inch taller or an inch shorter, as opposed to just a millimeter difference that we found with the previous variants, Hirschhorn says.

Scientists are still very far from identifying all the genes involved with stature, but these new findings do help them better understand the natural biochemistry that influences height.

So far most of our understanding of height has come from scientists who study children who have abnormal growth patterns, according to Constantine Stratakis, a pediatrician and scientific director of the National Institute of Child Health and Human Development.

There are rare experiments of nature that have told us these genes are involved in the regulation of growth, he says. In fact, he discovered one of those rare genes, linked to a trait called gigantism.

It leads to babies that double or triple their length in the first year of life, he says.

These natural experiments have been most useful for treating height disorders, but Stratakis hopes that eventually the genome-search methods will provide leads for future treatments.

The bigger lesson here is figuring out how the biology of a complex trait like height really works.

Rare variants can sometimes make a big difference, but most of the time its all about systems that interact that define how an organism behaves, or grows, or has a disease, develops a trait and so on, Stratakis says. And although its humbling to see the complexity, at this point its not unexpected.

Hirschhorn and his colleagues are expanding their already massive study of 700,000 subjects. That approach has drawn skepticism from some scientists, who think its a waste of effort.

David Goldstein, a professor of genetics at Columbia University, says an expanded effort could ultimately implicate every gene in existence, and that hardly helps scientists narrow down the biological factors that contribute to height.

Its likely scientists will never be able to figure out what these hundreds of common variants do to influence height, Goldstein says. Instead, a much better strategy is what Hirschhorn used in this latest study: looking for rare variants that pack a big punch.

Hirschhorn is undeterred.

We probably wont get all of the way to explaining 100 percent of the genetic factors, but in some sense thats not really our goal, Hirschhorn says. Our goal is to use the genetics to do our best at understanding the biology.

To that end, Hirschhorn and his colleagues are not just looking at height; theyre digging into traits that make people susceptible to diabetes and obesity.

The rest is here:
Genetics of Height is Way Complex, It Turns Out - KQED

In Soviet Russia, the science tests you.

A few years ago, one of us (Ian) was lucky enough to be invited to visit the N.I. Vavilov Institute of Plant Industry in St Petersburg, Russia. Every plant breeder or geneticist knows of Nikolai Vavilov and his ceaseless energy in collecting important food crop varieties from all over the globe, and his application of genetics to plant improvement.

Vavilov championed the idea that there were Centres of Origin (or Diversity) for all plant species, and that the greatest variation was to be found in the place where the species evolved: wheat from the Middle East; coffee from Ethiopia; maize from Central America, and so on.

Hence the Centres of Origin (commonly known as the Vavilov Centres) are where you should start looking to find genotypes the set of genes responsible for a particular trait with disease resistance, stress tolerance or any other trait you are looking for. This notion applies to any species, which is why you can find more human genetic variation in some African countries than in the rest of the world combined.

By the late 1920s, as director of the Lenin All-Union Academy of Agricultural Sciences, Vavilov soon amassed the largest seed collection on the planet. He worked hard, he enjoyed himself, and drove other eager young scientists to work just as hard to make more food for the people of the Soviet Union.

However, things did not go well for Vavilov politically. How did this visionary geneticist, who aimed to find the means for food security, end up starving to death in a Soviet gulag in 1943?

Enter the villain, Trofim Lysenko, ironically a protg of Vavilovs. The notorious Vavilov-Lysenko antagonism became one of the saddest textbook examples of a futile effort to resolve scientific debate using a political approach.

Lysenkos name leapt from the pages of history and into the news when Australias Chief Scientist, Alan Finkel, mentioned him during a speech at a meeting of chief scientists in Canberra this week.

Finkel was harking back to Lysenko in response to news that US President Donald Trump had acted in January to censor scientific data regarding climate change from the Environmental Protection Agency. Lysenkos story reminds us of the dangers of political interference in science, said Finkel:

Lysenko believed that successive generations of crops could be improved by exposing them to the right environment, and so too could successive generations of Soviet citizens be improved by exposing them to the right ideology.

So while Western scientists embraced evolution and genetics, Russian scientists who thought the same were sent to the gulag. Western crops flourished. Russian crops failed.

The emerging ideology of Lysenkoism was effectively a jumble of pseudoscience, based predominantly on his rejection of Mendelian genetics and everything else that underpinned Vavilovs science. He was a product of his time and political situation in the young USSR.

In reality, Lysenko was what we might today call a crackpot. Among other things, he denied the existence of DNA and genes, he claimed that plants selected their mates, and argued that they could acquire characteristics during their lifetime and pass them on. He also espoused the theory that some plants choose to sacrifice themselves for the good of the remaining plants another notion that runs against the grain of evolutionary understanding.

Pravda formerly the official newspaper of the Soviet Communist Party celebrated him for finding a way to fertilise crops without applying anything to the field.

None of this could be backed up by solid evidence. His experiments were not repeatable, nor could his theories claim overwhelming consensus among other scientists. But Lysenko had the ear of the one man who counted most in the USSR: Joseph Stalin.

The Lysenko vs Vavilov/Mendel/Darwin argument came to a head in 1936 at the Conference of the Lenin Academy when Lysenko presented his -ism.

In the face of scientific opinion, and the overwhelming majority of his peers, Pravda declared Lysenko the winner of the argument. By 1939, after quite a few scientists had been imprisoned, shot or disappeared, including the director of the Lenin Institute, there was a vacancy to be filled. And the most powerful man in the country filled it with Trofim Lysenko. Lysenko was now Vavilovs boss.

Within a year, Vavilov was captured on one of his collection missions and interrogated for 11 months. He was accused of being a spy, having travelled to England and the United States, and been a regular correspondent with many geneticists outside the Soviet Union.

It did not help his cause that he came from a family of business people, whereas Lysenko was of peasant stock and a Soviet ideologue. Vavilov was sent to a gulag where, tragically, he died in 1943.

Meanwhile, his collection in Leningrad was in the middle of a 900-day siege. It only survived thanks to the sacrifice of his team who formed a militia to prevent the starving population (and rats) from eating the collection of more than 250,000 types of seeds, fruits and roots even growing the potatoes in their stock near the front to ensure the tubers did not die before losing their viability.

In 1948, the Lenin Academy announced that Lysenkoism should be taught as the only correct theory, and that continued until the mid-1960s.

Thankfully, in the post-Stalin era, Lysenko was slowly sidelined along with his theory. Today it is Vavilov who is considered a Soviet hero.

In 1958, the Academy of Science began awarding a medal in his honour. The leading Russian plant science institute is named in his honour, as is the Saratov State Vavilov Agrarian University. In addition, an asteroid, a crater on the Moon and two glaciers bear his name.

Since 1993, Bioversity International has awarded Vavilov Frankel (after Australian scientist Otto Frankel) fellowships to young scientists from developing countries to perform innovative research on plant genetic resources.

Meanwhile, research here in Australia, led by ARC Discovery Early Career Fellow Lee Hickey, we are continuing to find new genetic diversity for disease resistance in the Vavilov wheat collection.

In the post-Soviet era, students of genetics and agriculture in Russia are taught of the terrible outcomes of the applications of Lysenkoism to Soviet life and agricultural productivity.

Lysenkoism is a sad and terrible footnote in agricultural research, more important as a sadly misused -ism in the hands of powerful people who opt for ideology over fact. Its also a timely reminder of the dangers of political meddling in science.

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The tragic story of Soviet genetics shows the folly of political meddling in science - The Conversation AU

February 08, 2017 08:00 ET | Source: Fulgent Genetics, Inc.

TEMPLE CITY, Calif., Feb. 08, 2017 (GLOBE NEWSWIRE) -- Fulgent Genetics, Inc. (Nasdaq:FLGT) (Fulgent Genetics or thecompany) today announced that its fourth quarter and full year 2016 financial results will be released after market close on Monday, February 27, 2017 . The companys Chairman and Chief Executive Officer Ming Hsieh, its Chief Science officer Dr. Harry Gao, and its Chief Financial Officer Paul Kim will host an investment community conference call the same day at 5:00 PM ET (2:00 PM PT) to discuss the results and answer questions.

The call can be accessed through a live audio webcast in the Investor section of the companys website, http://www.fulgentgenetics.com, and through a live conference call by calling 1-855-321-9535, passcode # 65226206. An audio replay will be available in the investors section of the companys website or by calling 1-855-859-2056 through March 6, 2017.

About Fulgent Genetics

Fulgent Genetics is a rapidly growing technology company with an initial focus on offering comprehensive genetic testing to provide physicians with clinically actionable diagnostic information they can use to improve the overall quality of patient care. The company has developed a proprietary technology platform that integrates sophisticated data comparison and suppression algorithms, adaptive learning software, advanced genetic diagnostics tools and integrated laboratory processes. This platform allows the company to offer a broad and flexible test menu while maintaining accessible pricing, high accuracy and competitive turnaround times. The company believes its current test menu, which includes more than 18,000 single-gene tests and more than 275 pre-established, multi-gene, disease-specific panels, offers more genes for testing than its competitors in todays market, which enables it to provide expansive options for test customization and clinically actionable results.

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Fulgent Genetics to Announce Fourth Quarter and Full Year 2016 Financial Results on February 27, 2017 - GlobeNewswire (press release)

February 07, 2017 01:02 ET | Source: Greengro Technologies

Creates New Division Called GenoBreeding to Improve Cannabis Strains

ANAHEIM, Calif., Feb. 07, 2017 (GLOBE NEWSWIRE) -- Greengro Technologies, Inc. (OTC:GRNH), a world-class provider of eco-friendly green technologies, today launched a new internal company division called GenoBreeding that will direct a Greengro initiative to bring to the market cutting edge cannabis varieties through the application of modern plant breeding technologies.

This initiative from Greengro is in keeping with the cannabis industrys increasing reliance on genetics heredity and the variation of inherited characteristic in plants to help growers create better, more powerful and sometimes personalized commercial cannabis strains that share desirable inherited characteristics.

This initiative includes the use of conventional and modern plant breeding techniques to develop high quality cannabis varieties for medical use, said Greengro CEO James Haas.

Greengro is working with a team of specialized plant scientists and geneticists to develop cannabis varieties that possess improved levels of key compositional traits (e.g., THC and CBD) by using innovative breeding technologies, according to Haas, who said that Greengro has had its cannabis genetics program in development for a number of years.

Greengros GenoBreeding group is focused on developing breeding tools such as molecular markers to enable breeding decisions and processes to achieve top-tier plant performance in a sustainable manner.

Our collaboration through this initiative with leading scientists enables us to utilize proven crop breeding techniques in the indoor production of cannabis, while at the same time modernizing Greengros existing efforts to produce original products for Californias cannabis market, said Haas, who indicated that the GenoBreeding division will eventually be spun off into its own company.

Were developing market leading elite cannabis genetics with innovative breeding solutions, explained Haas.

Greengros GenoBreeding initiative combines elite cannabis genetics with state-of-the-art plant breeding methods to maximize yields and expression of desired traits. Key elements in the breeding program include:

The goal of Greengros GenoBreeding initiative in using applied genetics in cannabis production is to promote stability and predictability in hybridized strains. Stability refers to minimizing variability and maximizing predictability found in the offspring of parent plant generations.

Genetics is helping growers create better, more powerful and sometimes personalized commercial cannabis strains.

This process involves the cannabis genome (the complete set of genes and genetic material present in the plant), genotype (the plant's complete heritable genetic identity), and phenotype (the set of a strains expressed, observable characteristics resulting from the interaction of its genotype with the environment).

Variability, a consequence of strain genetic instability, refers to the range of different phenotypes that will express when hybridizing two different plant strains. Desirable predictability refers to the expected distribution ratio of a plants different phenotypes expressed as a unique strain.

About Greengro Technologies Greengro Technologies is a national leader in both indoor and outdoor aquaponic and hydroponic systems and grow rooms, with specific domain expertise in agricultural science systems serving both the consumer and commercial farming markets. The company's customers include restaurants, community gardens, and small- and large-scale commercial clients. For more up to date info like our Facebook page athttps://www.facebook.com/GreengroTechnologiesInc?ref=hl.

Disclaimer:The Company relies upon the Safe Harbor Laws of 1933, 1934 and 1995 for all public news releases. Statements, which are not historical facts, are forward-looking statements. The company, through its management, makes forward-looking public statements concerning its expected future operations, performance and other developments. Such forward-looking statements are necessarily estimates reflecting the company's best judgment based upon current information and involve a number of risks and uncertainties, and there can be no assurance that other factors will not affect the accuracy of such forward-looking statements. It is impossible to identify all such factors. Factors which could cause actual results to differ materially from those estimated by the company include, but are not limited to, government regulation; managing and maintaining growth; the effect of adverse publicity; litigation; competition; and other factors which may be identified from time to time in the company's public announcements.

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Greengro Technologies, Inc. Launches Cannabis Genetics Breeding Initiative - GlobeNewswire (press release)

Ever wonder how much of your height you inherited from your parents?

A large-scale genetic study published recently in the journal Natureis helping shed some light on the factors that determine whether a person grows to be 6-feet-1 or 5-feet-2.

While scientists already had a good idea of the most common genetic factors that contribute to height, the new findings uncover a number of rare genetic alterations that can play a surprisingly major role in human growth.

Using data from the Genetic Investigation of Anthropometric Traits consortium (a group also known as GIANT), scientists from the Broad Instituteat MIT and Harvard analyzed genetic information from more than 700,000 people, discovering 83 DNA changes that play a part in determining a persons height.

In their previous work, the same research team identified nearly 700 common genetic factors linked with height. Now, theyve identified a number of rare genetic variants for human growth that have an even larger effect than most common factors. For some people, these rare DNA changes may account for height differences of up to a full inch.

Overall, common variants still contribute more to height than rare variants, Dr. Joel Hirschhorn, the studys lead author and a professor of pediatrics and genetics at Boston Childrens Hospital and Harvard Medical School, told The Huffington Post. But, for the person who happens to carry one of the rare variants, the impact can be much greater than for common variants. For the variants we looked at, this was up to almost an inch... as opposed to a millimeter or less for the common variants.

Using a new technology called the ExomeChip, the researchers were able to scan the genomes of large populations to find rare markers that correlated with a particular height. They identified 51 uncommon variants found in less than 5 percent of people, and 32 rare variants found in less than 0.5 percent of the population.

With the addition of these uncommon variants, geneticists can now account for 27 percent of the genetics determining height up from 20 percent based on earlier studies.

Heritability is by far the largest factor contributing to individual height.

Today, in places where most people get enough nutrition in childhood to grow to their potential, about 80 percent or more of the variability in height is due to genetic factors that we inherit from our parents, Hirschhorn explained.

According to the studys authors, this method of testing rare genetic variants could be used to investigate uncommon DNA changes involved in other aspects of human health.

Looking at rare variants in genes was helpful in understanding the biology of human growth, Hirschhorn said. With a big enough study, similar approaches could be valuable in understanding the biology of many diseases, which could help guide better treatments.

Originally posted here:
Scientists Discover 83 Genetic Mutations That Help Determine Your Height - Huffington Post

A new study presented this week at the Association of Academic Physiatrists Annual Meeting in Las Vegas shows rotator cuff disease might be a heritable trait.

Rotator cuff disease is a common disorder that affects 30 to 50 percent of people over the age of 50. The disease often leads to shoulder pain and loss of function. While many think of this as a 'tear' due to an injury or sustained over/misuse, some studies suggest genetics might play a role.

"People are living longer and more active lives, but a large percentage of these people may suffer from rotator cuff disease," explains Lead Investigator in the study, Dominique Dabija, MS, a medical student at Vanderbilt University School of Medicine. "Identifying a genetic link can help early recognition of individuals at higher risk and could warrant application of prevention strategies for this specific population.

To assess if there could be a genetic or familial predisposition to rotator cuff disease, Dabija along with Chan Gao, MD, PhD; Todd L. Edwards, MS, PhD; John Kuhn, MD, MS; and Nitin B. Jain, MD, MSPH, also from Vanderbilt University Medical Center looked through two databases (PubMed and EMBASE) that hold thousands of medical research studies to identify those using the term "rotator cuff." They searched all studies in the databases through March 2016 and narrowed down 251 citations to seven studies that were relevant to their literature review.

"Different studies on similar topics may produce different results depending on the specific methods and populations looked at," explains Dabija. "Our literature review compiles all of these studies to look at the data on a larger scale, and this allows us to identify macro trends as well as research gaps that need to be filled."

Four of the seven studies reviewed by Dabija's team assess whether there is a familial predisposition to rotator cuff disease. One of these found if an individual has a sibling with a rotator cuff tear, he or she is twice as likely to also have a tear and nearly five times more likely to have associated pain and loss of function. This is in comparison to if that individual did not have a sibling with a tear.

Another study reviewed by Dabija's team showed that a significantly higher number of individuals with tears (32.3 percent) had family members with a history of tears or surgery on their rotator cuffs than those without tears (18.3 percent).

A third study found if an individual is diagnosed with a rotator cuff tear before the age of 40, there is a higher likelihood that any of his or her family members immediate or extended will also have a tear. In contrast, if an individual is diagnosed with a rotator cuff tear after the age of 40, only close family members parents, siblings, grandparents, aunts/uncles have a higher likelihood of having a tear. This difference may also be attributed to environmental factors.

The other three studies investigated whether there is a genetic predisposition to rotator cuff disease, and these noted certain patterns of genes were found more often in people with rotator cuff disease when compared to those without rotator cuff disease.

"Although there was a small number of studies in this literature review pointing to a need for more studies on this topic the consensus among all seven studies is rotator cuff disease is a heritable trait," says Dabija. "More large-scale studies need to be performed, and these results can assist in identifying individuals at higher risk of developing a tear and then help them before they have pain."

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Studies reveal link between rotator cuff disease and genetics - News-Medical.net

As Geisinger Health Systems MyCode genetics research initiative grows to more than 132,000 participants, the community is seeing results in more ways than one.

And now the MyCode project is helping serve as a springboard to local participation in a federal initiative that could pump $40 million to $50 million of government funds and bring numerous jobs into central Pennsylvanias economy in the years ahead.

The DNA of the first participants in the study that began in 2007 has been read, and 148 people were found to have gene mutations that put them at greater risk for developing certain diseases or conditions such as cancer, heart disease or dangerously high cholesterol.

One finding of particular note: The research so far suggests that the incidence of familial hypercholesterolemia, a genetic disorder characterized by high cholesterol, is much higher than previously believed. While national data has shown about one in 500 people affected by FH, the Geisinger data is showing about one in 225 to 250, according to Andy Faucett, director of policy and education with Geisingers Genomic Medicine Institute in Danville.

Were starting to be able to provide results that will guide research around the world, Faucett noted.

Findings like this are significant because they can help improve health care by finding ways to diagnose medical conditions earlier or before they appear and also to help find new treatments or medications to manage these diseases, according to Geisinger.

INFORMATION EMPOWERING

For patients, the information can also be empowering, said Miranda Hallquist, genetic counselor with the Genomic Medicine Institute in State College.

Knowing it is related to genetics frequency empowers them to take steps, Hallquist said, adding that were changing peoples health care, giving them information they would not otherwise have gotten as quickly.

The MyCode initiative includes a biobank that stores blood and saliva samples from Geisinger patients who have agreed to participate. Geisinger has already far surpassed its initial goal of 100,000 participants and has set its next goal at 250,000.

Consenters at various Geisinger facilities approach patents to see if they want to participate in the program, and to answer questions they might have. Patients can also sign up at http://www.mygeisinger.org. Participation is relatively simple, generally involving donation of an extra 2 tablespoons of blood at the patients next blood draw. Participants also allow Geisinger to access information in their medical records.

About 90 percent of patients asked have agreed to participate, according to Geisinger.

It surprised me how altruistic people in central Pennsylvania are, Faucett said. He noted that while the program is open to all ages, many participants are older because that age group tends to go to the doctor more.

People are more concerned not so much about the information for themselves, but for their children and grandchildren, he said.

Currently Geisinger has between 1 million and 1.4 million active patients, so we have talked with about 10 percent of the patient population, Faucett said. His goal is that every patient have the opportunity to participate.

GENETIC MARKERS

Of those who provide samples, about 4 percent will hear back because they have genetic markers that make them susceptible to a certain disease. Other participants do not hear back because nothing of concern was found in their DNA.

For those who are found to be at increased risk, meetings are scheduled to discuss the results and appropriate next steps, Hallquist said.

We talk about what the result means for them and their family members, she said.

Part of that education process, Hallquist said, means helping patients sort through the genetics gobbledygook.

For the 96 percent of participants whose genetics dont show increased risks, their data is still imperative to the research project, Hallquist said.

The turnaround time from MyCode samples to results can take a year or more. Hallquist said that while that process should get faster as more staff are added, she emphasized that MyCode is not a substitute for clinical testing for those with health concerns.

PRECISION MEDICINE INITIATIVE

Geisingers experience with the MyCode project helped it become one of four new health care provider organizations selected to participate in the federal Precision Medicine Initiative Cohort Program to help build a nationwide million-person study.

The PMI was launched by then President Barack Obama in 2015 to bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier.

Ultimately depending on final funding from the National Institutes of Health, the program could bring $40 million to $50 million to Geisinger over the course of five years, Faucett said. These funds will be used to recruit participants, providing multiple jobs throughout the Geisinger footprint. NIH provides funding on a yearly basis, he said.

Participants in the MyCode initiative will be approached about joining the PMI study as well, but it will ask more of patients than MyCode does, Faucett and Hallquist said.

Central Pennsylvania is fertile ground for such studies.

It is a very stable community, with patients willing to participate, Faucett said.

Additionally Geisinger officials noted that its electronic health records system goes back to the late 1990s.

For many families, we have three generations of patient records, Hallquist said. This includes an average of 14 years of health information for MyCode participants.

MyCode has allowed Geisinger to recruit amazing scientists, Faucett said. The types of research we are doing is growing every day.

Faucett sees a future in which physicians will order a patients genetic profile and use it to help guide care over a lifetime.

It was the MyCode project that brought Hallquist to Geisinger.

Precision medicine is the future, she said, while noting that healthy lifestyle choices are still as important as ever. Being able to look at someones DNA to help determine what their risks are, its spectacular that its moving in that direction.

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Geisinger Genetics Research Offers Big Health, Economic Impact for Central Pennsylvania - State College News