Category Archives: Genetic Medicine

Newswise ATLANTA, Ga. Thomas R. Terrell, MD presented Prospective Cohort Study of the Association of Genetic Polymorphisms and Concussion Risk and Postconcussion Neurocognitive Deficits in College Athletes at the 21st American Medical Society for Sports Medicine Annual Meeting in Atlanta, Ga. on April 23, 2012.

A multi-center prospective cohort study of over 3,200 college and high school athletes was designed to look at the association of genetic polymorphisms with risk of acute concussion and for an associative link with longer duration of symptoms. Following analysis trying to link certain genetic polymorpisms, those evaluated did not show an association with prospective concussions, although some association was found in a pooled analysis of self-reported and prospective concussions.

Dr. Terrell, a two-time AMSSM Foundation Research Award winner, commented, Although we did not find an association of these genetic factors in association prospectively with concussions, the next segment of our research is to evaluate other genetic factors, particularly for associations with severe or recurrent concussions. He was optimistic about possible associations and said, As we look at further data and expand our numbers of concussions included in the study, part of the Tau gene and other genetic polymorphisms have a link in explaining neurocognitive recovery

The AMSSM annual conference features lectures and research addressing the most challenging topics in sports medicine today including prevention of sudden death, cardiovascular issues in athletes, concussion, biologic therapies, and other controversies facing the field of sports medicine.

More than 1,200 sports medicine physicians from across the United States and 12 countries around the world are attending the meeting.

Dr. Terrell is an Associate Professor at the University of Tennessee Graduate School of Medicine and holds a Certificate of Added Qualification in Sports Medicine.

The AMSSM is a multi-disciplinary organization of sports medicine physicians whose members are dedicated to education, research, advocacy, and the care of athletes of all ages. Founded in 1991, the AMSSM is now comprised of more than 2,000 sports medicine physicians whose goal is to provide a link between the rapidly expanding core of knowledge related to sports medicine and its application to patients in a clinical setting.

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Genetic Associations with Concussions Discussed by AMSSM Researcher

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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In Brief This Week: Fluidigm; Gen-Probe; Arrayit; LGC Genomics; ACMG Foundation for Genetic and Genomic Medicine

Researchers have created artificial genetic material known as Xenonucleic acids, or XNAs, that can store information and evolve over generations in a comparable way to DNA.

The research, reported Friday in the journal Science, has implications for the fields of molecular medicine and biotechnology, and sheds new light on how molecules first replicated and assembled into life billions of years ago.

Living systems owe their existence to the information-carrying molecules DNA and RNA. These fundamental chemical forms have two features essential for life: they display heredity, meaning they can encode and pass on genetic information, and they can adapt over time.

Whether these traits could be performed by molecules other than DNA and RNA has been a long-debated issue.

For the current study, an international team of researchers developed chemical procedures to convert DNA and RNA into six genetic polymers known as XNAs. The process switches the deoxyribose and ribose (the d and r in DNA and RNA) for other molecules.

The researchers demonstrated for the first time that all six XNAs could form a double helix with DNA, and were more stable than natural genetic material. Moreover, one of these XNAs, a molecule known as anhydrohexitol nucleic acid, or HNA, was capable of undergoing directed evolution and folding into biologically useful forms.

Philipp Holliger of MRC Laboratory of Molecular Biology in Cambridge, the studys senior author, said the work demonstrated that heredity and evolution were possible using alternatives to natural genetic material.

There is nothing Goldilocks about DNA and RNA, he told Science.

There is no overwhelming functional imperative for genetic systems or biology to be based on these two nucleic acids.

Both RNA and DNA embed data in their sequences of four nucleotides. This information is vital for conferring hereditary traits and for supplying the coded recipe essential for building proteins from the 20 naturally occurring amino acids. However, precisely how and when this system began remains one of the most perplexing and hotly contested areas of biology.

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Researchers Create Synthetic DNA/RNA That Can Evolve

Newswise COLUMBUS, Ohio An international consortium of researchers have identified a group of genes associated with the development of osteoporosis, a debilitating bone disease that cripples more than 10 million Americans a year and costs the U.S. healthcare system an estimated $17 billion annually.

The study identified 56 genes associated with bone-mineral density (BMD), the measurement used to diagnose osteoporosis. From 50 to 85 percent of variation in BMD is thought to be inherited. The findings could lead to a blood test to identify people who are at greatest risk of fractures. Fourteen of these variants were also found to increase the risk of bone fracture, 32 of the genes identified had not been linked earlier to osteoporosis and several of them were not previously known to be involved in bone biology.

Findings from the largest genome-wide association study of osteoporosis appear in TODAYs Nature Genetics.

This study has revealed genetic predictors of bone health and osteoporosis as patients move into their much later adult years, says Dr. Rebecca Jackson, an endocrinologist at The Ohio State University Wexner Medical Center, co-author and a member of the GEnetic Factors for OSteoporosis (GEFOS), which led the study.

For this study, the researchers gathered data from more than 50 studies conducted across the globe involving 32,961 people of European and East Asian ancestry. In all, the scientists analyzed more than 80,000 individuals and identified and examined links to bone fractures in approximately 30,000 cases and 100,000 controls.

Jackson, associate dean for clinical research in Ohio States College of Medicine and vice chair for the National Institutes of Health-sponsored (NIH) Womens Health Initiative (WHI) a 15-year federally funded study of womens health, says the results of the new research will help tailor prevention strategies.

These findings should help us design effective risk assessments and novel therapeutics for those afflicted with osteoporosis, says Jackson, also director of Ohio States Center for Clinical and Translational Science (CCTS), which is dedicated to translating scientific discoveries into future disease prevention strategies, health diagnostics and treatments.

Osteoporosis is a disease characterized by low bone mass and deterioration of bone tissue resulting in an increased risk of fracture. It is often referred to as a silent disease because individuals do not experience symptoms until after a fracture occurs. According to previous research published in the Journal of Bone Mineral Research, osteoporosis accounts for approximately 1.5 million new bone fracture cases each year.

According to the GEFOS consortium, this research leads to a better understanding of the biology of human skeletal health and fracture susceptibility. It also discovered groups of individuals with a smaller number of variants protected them against developing osteoporosis or sustaining fractures. A higher BMD results in lower risk of fracture. Funding from the European Commission supported this research. Grants awarded by the NIH and National Cancer Institute, as well as numerous international research funding received by multiple scientists from all over the world, have been acknowledge as additional funds which contributed to the study.

### Click here for a high-resolution photograph of Dr. Rebecca Jackson, or go to: http://go.osu.edu/JyK.

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Genetic Variants May Predict Those at Greatest Fracture Risk

Public release date: 15-Apr-2012 [ | E-mail | Share ]

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center

STANFORD, Calif. Thirty-two previously unidentified genetic regions associated with osteoporosis and fracture have been identified by a large, worldwide consortium of researchers, including Stanford Prevention Research Center chief John Ioannidis, MD, DSc. Variations in the DNA sequences in these regions confer either risk or protection from the bone-weakening disease. Many, but not all, of the regions encode proteins involved in pathways known to involve bone health.

The research shows that osteoporosis results from the combined contributions of dozens, if not hundreds, of genes. It also suggests many new avenues for anti-osteoporosis drug development.

"We're learning that the genetic architecture of disease is very complex," said Ioannidis, who is one of seven senior authors of the study and the methodological leader of the consortium. The research will be published online April 15 in Nature Genetics.

The unprecedented prospective meta-analysis which involved 17 genome-wide association studies, 180 researchers and more than 100,000 participants also identified six regions strongly correlated with the risk of fractures of the femur or lower back. However, the predictive power of the study for individuals is relatively low: Those with multiple risk-increasing variants are only about three to four times more likely than those with the fewest variants to have lower bone mineral density and experience fractures.

"As a result," said Ioannidis, "the next step of incorporating this information into basic patient care is not clear. Each variant conveys a small quantum of risk or benefit. We can't predict exactly who will or won't get a fracture."

Although factors such as body weight, build and gender are currently much more predictive of osteoporosis than any of the genetic variants identified in the study, the research identified many pathways involved in bone health. The biological relevance of the findings was confirmed by the fact that some of the pathways are already targeted by current anti-osteoporosis drugs. Other, previously unsuspected pathways will help researchers understand more about the disease and how to develop drugs to fight it.

The research belies recent frustration with the ability of genome-wide association studies, or GWAS, to live up to their early hype. When first introduced in 2005, many researchers predicted that GWAS a way of quickly scanning whole genomes for minute differences associated with disease occurrence would quickly identify critical mutations for many conditions. This optimistic assessment proved to be largely unfounded for complex conditions such as osteoporosis, type-2 diabetes and obesity, which likely involve the combined effects of many genes and environmental components.

This study suggests that the number of participants in most GWAS may need to be vastly expanded to render useful data.

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New genetic regions linked to bone-weakening disease and fractures, Stanford researcher says

After years of struggling to identify genetic factors that contribute to autism spectrum disorder, scientists have identified several gene mutations that likely increase a persons risk of developing the condition.

Using clinical sequencing, researchers estimate that there probably are 1,000 genes or more linked to the development of ASD. They also confirmed certain mutations often are linked to a childs father.

The findings were published online April 4 in three separate studies in the journal Nature. Each study included lead investigators from the Autism Sequencing Consortium, an international group of autism genetics researchers working to identify additional genetic causes of autism through sequencing.

1 in 8 U.S. 8-year-olds is diagnosed with autism today, compared with 1 in 110 in 2006.

We now have a good sense of the large number of genes involved in autism and have discovered about 10% of them, said Joseph D. Buxbaum, PhD, a study author and director of the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine in New York. The center leads research studies on ASD and cares for people with the condition.

As more of these genes are identified, it will lead to earlier diagnosis [of ASD] and novel drug development. This work is crucial for advancing autism treatment, said Buxbaum, professor of psychiatry, genetics and genomic sciences, and neuroscience at Mount Sinai. He also is a founder of the Autism Sequencing Consortium.

Though the findings are a significant step toward better understanding and treatment of ASD, they do not yet have much implication for primary care, said Jeremy Veenstra-VanderWeele, MD, assistant professor of psychiatry, pediatrics and pharmacology at Vanderbilt University School of Medicine in Nashville, Tenn.

Within a few years, physicians might be able to order genetic tests that comprehensively identify gene mutations linked to ASD, he said. In the meantime, doctors can tell parents whose child has ASD that scientists have identified some likely genetic causes of the neurodevelopmental condition and continue to search for more.

This will help families emotionally to have an explanation of why their child has autism, said Benjamin Neale, PhD, an author of one of the studies in Nature and assistant in genetics at Massachusetts General Hospital and Harvard Medical School in Boston.

Childhood autism diagnoses are rising in the United States, according to a study of 8-year-olds showing that about one in 88 has some form of ASD. In 2006, the rate was one in 110, said a study in the March 30 issue of the Centers for Disease Control and Preventions Morbidity and Mortality Weekly Report.

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Genetic mutations, environmental factors linked to autism