Search Results
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 … working groups with expertise in cardiovascular disease, inborn errors of metabolism, somatic cancer, neuromuscular …
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 … racism in biomedical research, through the launch of an initiative called UNITE . I encourage you to respond to … pandemic, I would — as I have in previous issues of The Genomics Landscape — like to offer some “remote …
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 … American College of Medical Genetics and Genomics Report & Revised Scope of …
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.
… 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 … to identify new targets in the prevention and treatment of stroke, cardiovascular disease and many other common …
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 … and accomplishments from the institute and the field of genomics.  … genetic diseases. He has made seminal discoveries about inborn errors of metabolism (including the establishment of …
File
… ! 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 … American College of Medical Genetics and Genomics Report to Council.pdf …
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 … Leslie Biesecker, M.D., chief of the Medical Genomics and Metabolic Genetics branch at … Biesecker said. "First, the findings could only show two errors in 5,660 variants by using the Sanger confirmation …
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 from the University of Illinois - Urbana/Champaign. Following graduate school, … Dr. Koehly was a research associate at the University of Texas, M.D. Anderson Cancer Center and on the faculty at …
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 . … disorder. Individuals who inherit two mutant copies of GBA1 have Gaucher disease, a rare lipid storage disorder …
News Release
Researchers have found powerful clues to why certain processes and systems in the mouse are so different from those in people.
… Looking 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 …