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Newswise Bethesda, MD, February 20, 2015:

The Association for Molecular Pathology (AMP), the premier global, non-profit organization serving molecular laboratory professionals today presented at the U.S. Food and Drug Administration public workshop, Optimizing FDAs Regulatory Oversight of Next Generation Sequencing Diagnostic Tests, outlining specific ways that FDA could best facilitate innovation of precision medicine. The purpose of the workshop is to discuss and receive feedback from the community on FDAs regulatory approach to diagnostic tests for human genetics or genomics using NGS technology.

A number of AMP members participated in the workshop today, including Roger D. Klein, MD, JD, Chair, AMP Professional Relations Committee who presented recommendations for FDAs role in assuring safe and effective NGS diagnostic tests. Our members are among the early adopters and users of next-generation sequencing (NGS) in a clinical setting, and have accumulated substantial knowledge and expertise as it relates to this novel and powerful technology, said Dr. Klein. On behalf of the many medical professionals who design, develop, perform, interpret, and communicate the results of clinical implications of these valuable diagnostic processes, we urge the FDA to consult with NGS experts and professional organizations in constructions of standards for NGS products.

AMPs oral comments emphasized four key points:

1. FDA can best contribute to patient care and public health by helping to ensure the performance characteristics of NGS products sold to customer laboratories. 2. FDA should partner with outside organizations and experts to set standards for FDA-cleared or approved products and to assist in development of recommendations and practice guidelines for clinical laboratories engaging in NGS testing. 3. The College of American Pathology (CAP), The American College of Medical Genetics and Genomics (ACMG), the Clinical Laboratory Standards Institute (CLSI), and other organizations have already produced laboratory accreditation requirements and practice guidelines that are used to ensure high-quality performance of NGS tests. 4. Although NGS represents a fairly new technology, the operational, validation and quality control procedures of the majority of medical NGS assays are extensions of those generally accepted for older technologies.

Furthermore, AMP points out that while they recommend FDA develop guidelines to safeguard proper performance of NGS products, they do not believe FDA has either the authority or the justification to regulate NGS beyond the instruments, software, test kits and reagents sold to customer laboratories. The interpretation and use of the genetic information derived from NGS diagnostic tests is at the heart of what we and ordering providers do, said Andrea Ferreira-Gonzalez, PhD, Chair of AMPs NGS Working Group. As these activities are central to the practice of medicine, they must remain outside the purview of FDA.

AMPs oral comments are available here: http://www.amp.org/advocacy/documents/AMPNGSMeetingcommentsFinalDraft.pdf

AMP plans to submit detailed written recommendations and comments to FDA on March 20, 2015.

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AMP Delivers Oral Comments at FDA Workshop on Optimizing Regulatory Oversight of Next Generation Sequencing Diagnostic ...

By inserting bits ofhuman DNAinto mice, scientists were able to make their brains develop more rapidly -- and ultimately grow bigger -- in the womb. The study, published Thursday in Current Biology, suggests that the evolution of thisgene may be one of the things that sets us apart from our close relatives in the primate world.

Human brains are unique, even when compared with our close genetic relatives, such as chimpanzees. Our brains are about three times heavier than those of our cousins, and are more complex and interconnected as well. It's generally accepted that these neurological differences are what allowed us to evolve the higher brain function that other primates lack. But just what genetic changes allowed humans to surpass chimps in the brain arena is one that's still being answered.

There are a lot of physical differences to examine more closely, but size is such a dramatic one that the authors of the new study chose to start there.

Using databases created by other labs, the Duke University scientists cross-checked areas of human DNA that had developed differences from chimp DNA with areas of DNA they expected to be important for gene regulation. Regulator genes help determine how other genes will express themselves, and the researchers suspected that some of these regulators might be making brain development more active in human embryos than in chimps.

They ended up focusing on a region called HARE5 (short for human-accelerated regulatory enhancer), which testing indicated had something to do with brain development. They suspected that the enhancer, which is found close to a molecular pathway important in brain development, might have changed in a way that influenced brain size in humans.

"We discovered that the human DNA sequence, which only had 16 changes in it compared to the chimp sequence, was being expressed differently in mice," said study authorDebra Silver, an assistant professor of molecular genetics and microbiology in the Duke University Medical School.

In fact, HARE5 was regulating how many neural stem cells -- the precursors of brain cells -- a mouse embryo could produce.

"The human DNA was really able to accelerate the way the stem cells divide," Silver said. "And as a result, the mice were able to produce more neurons."

The brains of these genetically modified mice grew 12 percent bigger than ones given the chimpanzee version of HARE5.

For humans, Silver said, this difference could be crucial. Humans and chimps have similar gestation periods, which are fairly long when compared with other species.

Excerpt from:
Debra Silver comments: Scientists pinpoint a gene regulator that makes human brains bigger

Researchers are beginning to understand how DNA makes some athletes more likely to get hurt.

Injury is a fact of life for most athletes, but some professionalsand some weekend warriors, for that matterjust seem more injury-prone than others. But what is it about their bodies that makes the bones, tendons, and ligaments so much more likely to tear or strainbad luck, or just poor preparation?

A growing body of research suggests another answer: that genetic makeup may play an important role in injury risk.

A review article recently published in the Clinical Journal of Sports Medicine emphasizes that research on the genetics of sports injuries holds great potential for injury prevention for athletes at every level. The authors, from Stanford Universitys department of developmental biology and genetics, believe that genetic testing also gives athletes valuable information that might increase their competitive edge.

Stuart Kim, one of the studys authors and a professor of genetics at Stanford, says his interest in sports injuries began almost by accident. I initially intended to study the genes associated with the large size of NFL lineman, but the athletes werent really interested in finding out the genetic reasons why they were so big, Kim says. But they were extremely interested in figuring out what injuries they were more likely to sustain.

Genetic information can be valuable for amateur athletes, tooregardless of skill level, someone about to join a recreational basketball league or a tennis club would be well-served to know if theyre at risk of blowing out an ACL or tearing an Achilles. Each year, around 2 million adults go to the emergency room for sports-related injuries, many of them acquired during pickup games or matches in recreational leagues.

Within the field of sports-injury genetics, some studies have focused on variations in the genes that control the production of collagen, the main component of tendons and ligaments. Collagen proteins also form the backbone of tissues and bones, but in some people, structural differences in these proteins may leave the bodys structures weaker or unable to repair themselves properly after injury. In a study published in the British Journal of Sports Medicine in 2009, South African researchers found that specific variations of a collagen gene named COL1A1 were under-represented in a group of recreational athletes who had suffered traumatic ACL injuries. Those who had torn their ACL were four times as likely as the uninjured study subjects to have a blood relative who had suffered the same injury, suggesting that genetics are at least partially responsible for the strength of the ligament.

The same COL1A1 gene has also been linked to other soft-tissue injuries, like Achilles-tendon ruptures and shoulder dislocations. In a review article that combined the results of multiple studies on the COL1A1 gene, published in the British Journal of Sports Medicine in 2010, researchers concluded that those with the TT genotypeone of three potential variants of the gene, found only in 5 percent of the populationare extremely unlikely to suffer a traumatic ligament or tendon injury.

However, because of the vast complexity of the human genome, its highly improbable that a single variant within a gene can determine a persons genetic risk for a given soft-tissue injury. Researchers agree its much more likely that these injuries, like complex conditions such as obesity or type 2 diabetes, are influenced by multiple genes.

The COL5A1 gene, another one associated with collagen production, has been linked to a higher risk of injury of the ACL and Achilles tendon, as well as greater susceptibility to exercise-induced muscle cramping. A 2013 study in the Clinical Journal of Sports Medicine found that specific variants of COL5A1 were strongly correlated with muscle cramping among runners in the Two Oceans Marathon in South Africa.

Read this article:
The Genetics of Being Injury-Prone

An Ebola vaccine candidate that has been undergoing human trials in the lab now will be used in trial on people in a real world environment with assistance from the Ames-based biopharmaceutical company NewLink Genetics Corporation.

On Thursday, the company announced that with its collaboration with pharmaceutical company Merck, a vaccine for the virus, which has reached epidemic status in parts of Africa and popped up in other parts of the world, will soon begin clinical trials in Liberia.

The control group will be comprised of 27,000 patients and there are plans to do trials in other countries.

We are cautiously optimistic that the trials will lead to data that says the vaccine works, said Charles Link, CEO of NewLink Genetics.

There is no timeline for results, and Link said the trials will take several months.

The company will also receive $20 million in connection with the achievement. The company received $30 million when it first reached a license agreement with Merk in 2014.

Merck obtained an exclusive license to research, develop, manufacture and distribute the Ebola vaccine candidate as well as any follow-on products

Other partners in this collaboration project include the government of Canada, the U.S. Department of Health and Human Services, the U.S. Department of Defense and the World Health Organization.

NewLink, which is located in the Iowa State University Research Park, began work with an Ebola vaccine in 2010 when it acquired the vaccine candidate from Public Health Agency of Canada, which developed it.

At that point, it was for animal experiments and not for humans, Link said. The laboratory work and research to get to the current point was accelerated because of the outbreak in West Africa.

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Ames company aids in Ebola vaccine candidate