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Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA … mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … … Exploratory Research Program, exome, clinical cancer care … Researchers have created a promising new method to …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed … Institute. "Along with robust clinical evaluations, genomics will play a central role in the UDN's mission." Dr. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. Mitochondrial … interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… the opening talk at the fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … the human genome reference sequence useful to basic and clinical researchers and to increase the representation of …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… be a downside, of course. Healthcare providers who discuss genomics and behavioral risk factors with overweight mothers … may be able to reduce that guilt by being more careful in the future about their children's diet, Dr. Persky's team … that we don't know," Dr. Persky said. "Any of the clinical discussions that are happening these days are …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Dr. Biesecker is a clinical and molecular geneticist and is the chief of the … medical training at the University of Illinois, training in pediatrics at the University of Wisconsin, and in clinical … Society of Human Genetics for 2019. … The Precision Genomics Section research program focuses on understanding …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… Human Genome Research Institute where she serves as deputy clinical director and directs the Pediatric Undiagnosed Diseases Program. Dr. Tifft received her B.A. in biology from Revelle College at the University of California at San Diego and her M.S. in genetic counseling from Rutgers University. She received …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is … of daily living. GNE Myopathy results from variants in a gene called GNE , which is responsible for a step in the production of a sugar called sialic acid. The …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … at broadening the applications of genomic information in biomedical research and health care. Some of the successes of this program, which culminated …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… video tag. Credit: Harry Wedel, NHGRI.  Despite the rise in studies using polygenic risk scores, researchers have … to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, … Goddard, Ph.D., director of Translational and Applied Genomics at the Kaiser Permanente Center for Health Research, …