Search Results
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in … the NHGRI Intramural Research Program (IRP), focusing on inborn errors of metabolism. Training future generations of clinical …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… clinical practice. One factor that limits the clinical use of variant information is the lack of openly accessible … hereditary (germline) cancer, somatic cancer and inborn errors of metabolism have been brought together to assist in …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… (see story below). This gathering was nothing short of intense, stimulating, and exhilarating, with numerous … genetic diseases. He has made seminal discoveries about inborn errors of metabolism (including the establishment of the …
File
… 1 © American College of Medical Genetics and Genomics ACMG PoliCy StAteMent This … to improve outcomes for individuals diagnosed with inborn errors of metabolism created a need for a clinical geneticist …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… Steven Benowitz … Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied … genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead … biochemical pathway called the folate one-carbon metabolism (FOCM) pathway. They knew that abnormally high …
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… ! 301.718.9604 fx ! www.acmg.net September 7, 2016 Summary of Recent Activities of The American College of Medical … 122 (Health Coverage For Nutritional Products For Inborn Errors Of Metabolism), asking AMA to support legislation …
Staff
Dr. Laura Koehly is the chief of and senior investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.​
… Genome Research Institute (NHGRI), National Institutes of Health. She earned her Ph.D. in quantitative psychology … children affected by chronic health conditions, such as inborn errors of metabolism or Tay Sachs disease, as well as for …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 issue of M olecular Genetics and Metabolism . … A single mutation in the Gaucher disease gene, …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… may have important implications for the DNA sequencing of clinical samples, and perhaps affect the diagnostic … Biesecker said. "First, the findings could only show two errors in 5,660 variants by using the Sanger confirmation … base substitutions because it may cause more diagnostic errors than it will correct," Dr. Biesecker said. He …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… across evolutionary time and the genomic landscapes of humans and mice, an international group of researchers has found powerful clues to why certain … and systems in the mouse - such as the immune system, metabolism and stress response - are so different from those …