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Newswise NEW ORLEANS, La. David Epstein, author of the New York Times bestseller, The Sports Gene, will deliver the Presidential Keynote at the 23rd Annual Meeting of the American Medical Society for Sports Medicine (AMSSM) at the Hyatt Regency in New Orleans next week. In his keynote, Epstein will address the following:

How "nature versus nurture" in sports is a false dichotomy. Why Major League Baseball players need both the right physical "hardware" and "software" to be able to hit 100-mph fastballs. Where the 10,000-hours rule comes from and what the data from that famous study says. How the body types of athletes have changed faster than the gene pool of humanity has changed, and how that provides new information to help people find the right sport. Why the push for increased youth sport specialization is bad both for the health of youth athletes and their athletic development.

Epstein is currently an investigative reporter at the nonprofit newsroom, ProPublica. Prior to that, he was a senior writer at Sports Illustrated, where he focused on sports science and medicine. Epstein is perhaps best known for co-authoring the story that exposed the steroid use of Yankees third baseman Alex Rodriguez. He has a Masters degree in environmental science and was All-East as an 800-meter runner at Columbia University.

His presidential keynote will be held from 10:40 a.m. to 11:10 a.m. on Sunday, April 6, 2014 at the Hyatt Regency New Orleans. Registration is required for admittance. Media interested in being credentialed for the 2014 AMSSM Annual Meeting must contact Jessica Torres-Sosa, AMSSM Communications Manager, at jtorres@amssm.org.

About the AMSSM Annual Meeting: More than 1,400 sports medicine physicians from the United States and abroad come together to address advances and challenges in sports medicine through lectures and research. Learn more at https://www.amssm.org/ConferencesDetails.php?IDconf=58&Past=.

About the AMSSM: AMSSM is a multi-disciplinary organization of 2,500 sports medicine physicians dedicated to education, research, advocacy and the care of athletes of all ages. The majority of AMSSM members are primary care physicians with fellowship training and added qualification in sports medicine who then combine their practice of sports medicine with their primary specialty. AMSSM includes members who specialize solely in non-surgical sports medicine and serve as team physicians at the youth level, NCAA, NFL, MLB, NBA, WNBA, MLS and NHL, as well as with Olympic teams. By nature of their training and experience, sports medicine physicians are ideally suited to provide comprehensive medical care for athletes, sports teams or active individuals who are simply looking to maintain a healthy lifestyle. http://www.amssm.org

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David Epstein, New York Times Best-Selling Author of 'The Sports Gene', to Deliver Presidential Keynote at 2014 AMSSM ...

Charlottesville, VA (PRWEB) March 27, 2014

Researchers at the University of Virginia School of Medicine have identified a key gene variation linked to an increased risk of stroke. The discovery comes as part of a breakthrough in the understanding of what causes some people to produce too much homocysteine, an amino acid associated with stroke, cancer, dementia, hardening of the arteries and other diseases.

As part of their work, the researchers have developed a genetic test that can predict which people are at risk for producing too much homocysteine, and their discovery could lead to new treatments for the associated diseases.

The findings also show that the conversion of the enzyme methionine into homocysteine the primary focus of the researchers investigation plays an important role in controlling the activity of genes. That discovery could have significant implications for understanding stroke, cardiovascular disease and other conditions.

Excess Homocysteine While high homocysteine levels have long been suspected as a culprit in diseases, efforts to lower homocysteine in scientific trials have not produced health benefits. The new UVA research explains what may be happening to produce the elevated levels, suggesting that one gene in particular, GNMT, is being stimulated to work too hard. The researchers found four other genes that appear to play a role as well, though to a lesser degree.

What we found was a really striking result for a genome association study, said Stephen R. Williams, PhD, a postdoctoral fellow at UVAs Cardiovascular Research Center and UVAs Center for Public Health Genomics. Its hard to find something thats significant, and its hard to find something biologically relevant, and we did that five times over.

Risk for Stroke The researchers set out to determine why certain people metabolize methionine into homocysteine differently than do others. To do so, they reviewed the genomes of nearly 5,000 participants in two studies: the Vitamin Intervention for Stroke Prevention, a trial that aimed to prevent people from suffering a second ischemic stroke, and the Framingham Heart Study, which has followed participants cardiovascular health for decades. It was through that review that the researchers were able to identify the five critical genes, including one form of the ALDH1L1 gene associated with ischemic stroke in the Framingham study.

The researchers then determined that differences in the regulation of the GNMT gene are the main reasons for the variations in methionine metabolism in people. To reach that conclusion, they created a test based on the DNA from a person who was a high methionine metabolizer and DNA from a low metabolizer, to see how the DNA reacted when treated with methionine. What turned out was that the individuals who had higher post-methionine load homocysteine had higher gene-promoter activity, Williams said. That was really interesting, because it gave us a functional cause that partially explains why this may be happening and the genetics of why people may metabolize methionine differently.

The researchers were able to devise a risk score evaluating the risk for developing excess homocysteine based on which gene variations people have. If you had all of them, you are in the highest risk category, said UVA researcher Michle Sale, PhD.

The risk score actually predicts how an overall population would perform in the post-methionine load test, Williams explained. Thats genetic relevance thats actually leading to clinical prediction. So thats really cool.

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UVA Links Gene to Stroke Risk, Finds Clues to Genetics of Many Diseases

PUBLIC RELEASE DATE:

26-Mar-2014

Contact: Cathy Yarbrough press@genetics-gsa.org sciencematter@yahoo.com 858-243-1814 Genetics Society of America

Four years ago, University of Iowa scientists discovered that mutations in the prickle gene in Drosophila were responsible for much more than merely altering the bristles on the fly's body to point them in the wrong direction.

Prompted by a colleague's finding that PRICKLE gene mutations were responsible for triggering a form of epilepsy in humans, John Manak, Ph.D., who led the fly research team, took a closer look at the Drosophila prickle mutants. (PRICKLE refers to the human gene, while prickle is the Drosophila form of the gene.)

Through a series of experiments, Dr. Manak found that flies with prickle mutations had seizures with jerky movements of their wings and leg muscles that closely resembled the myoclonic form of epilepsy that affects patients with mutations in the human version of the gene. During myoclonic epileptic seizures, the patients' muscles involuntarily twitch and jerk.

In a 2011 paper about the discovery, the University of Iowa scientists also reported that valproic acid, the anti-convulsive drug, which has been used to effectively treat myoclonic epilepsy patients with PRICKLE gene mutations, also helped control seizures in the mutated flies. These findings suggested that the pathway responsible for seizures in flies and humans was conserved, and that flies with prickle mutations could now be used to screen new experimental therapeutic agents for this disorder. These experiments are now underway.

The scientists have continued to investigate Drosophila flies with the mutated prickle gene. They determined that the seizure threshold, the amount of electrical stimulation required to induce a seizure, was lower in flies with the prickle mutation than in the normal (control) Drosophila flies of the same age, demonstrating that these flies exhibited a classic characteristic of seizure susceptibility. In addition, muscle recordings after experimentally induced electric shock through the nervous system revealed that spiking activity, a measure of neuronal activity, was higher in the flies with the prickle mutations than in the control flies.

Using a technique that they developed for the study, the researchers also found that ataxia (or uncoordinated gait), which occurs in patients with myoclonic epilepsy, also occurs in flies with the prickle gene mutation. The ataxia was more severe in the Drosophila with two prickle gene mutations than in flies with one prickle gene mutated, suggesting that prickle dosage plays an important role in controlling seizures.

The University of Iowa researchers' most recent studies have identified the basic cellular mechanism that goes awry in the prickle mutant flies, leading to the epilepsy-like seizures, and these data will be presented at the GSA Drosophila Research Conference.

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Gene mutations in flies and humans produce similar epilepsy syndromes

(PRWEB) March 27, 2014

According to the new market research report, Gene Expression Analysis Market by Technology (DNA Microarray, Real-Time PCR, Next Generation Sequencing), Consumables (DNA Chips, Reagents), Services (Gene Profiling, Bioinformatics, Data Analysis Software) & Applications - Global Forecast to 2018, global gene expression analysis market estimated at $2.6 billion in 2013 and is expected to reach $4.3 billion by 2018, growing at a CAGR of 10.4% from 2013 to 2018.

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The global gene expression analysis market is witnessing a significant growth and will continue to do so in the next five years. The factors contributing to this growth are increased funding scenario worldwide, increased government involvement, developments in research for diseases like cancer, and the use of gene expression in drug discovery and personalized medicine. The Asian region is projected to have the highest growth rate with growth hinged at China, India, and Japan. Apart from Asia, countries such as Turkey, Brazil, and South Africa too have a high projected growth.

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Over the years, gene expression analysis techniques have evolved significantly and are being widely used in the areas of diagnostics, drug discovery, and treatment of certain diseases. In the past few years, the market has witnessed significant technological advancements, as companies have introduced new products in the market. This technologically driven market has witnessed a large number of offerings by big as well as small companies. In order to be competitive in this market, companies must be focused on delivering superior quality products that are technologically advanced.

Various key growth strategies such as new product launches, acquisitions, expansions, agreements, partnerships, collaborations, and joint ventures were mainly adopted by key players such as QIAGEN N.V. (Netherlands), Agilent Technologies (U.S.), Illumina, Inc. (U.S.), Life Technologies Corporation (U.S.), and Roche Diagnostics Corporation (Switzerland). These players adopted these strategies to increase their market shares. For instance, in October 2013, QIAGEN acquired CLC bio, a leading bioinformatics analysis software provider. This acquisition will position QIAGEN as a leader in next-generation bioinformatics, with a focus on biological analysis and interpretation/reporting. Thus, companies are investing efforts and resources in these strategies to help them gain a competitive advantage in the gene expression analysis market.

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Gene Expression Analysis Market (Gene Profiling, Bioinformatics, Data Analysis Software) worth $4.3 Billion by 2018 ...