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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.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of … grant is advocating for and facilitating submission of clinical-grade variant interpretations into NCBI’s publicly …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new health-related … appropriate for the scientists to look for and share such research findings. … among researchers, ethicists, policymakers, and research participants about the return of individual research …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… Hadjantonakis Sloan Kettering Institute for Cancer Research Johns Hopkins University School of Medicine Sloan Kettering Institute for Cancer Research Genomic control of gene regulatory networks … Center for the Impact of Genomic Variation on Function Consortium HG012012 Ting Wang Feng Yue Washington University, …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… Architecture using Genomics and Epidemiology (PAGE) Consortium ( RFA HG-07-014  and  RFA HG-07-015 ) was formed … In September 2013, the NHGRI announced new awards to four research groups representing six national cohorts and one … Ph.D. and Ulrike Peters, Ph.D., Fred Hutchinson Cancer Research Center Mount Sinai Biobank Program (MSSM Institute …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome Research Institute (NHGRI) has appointed Benjamin Solomon, M.D., to lead the institute’s intramural  Clinical Research Program , which provides oversight and … NHGRI appoints Dr. Benjamin Solomon as clinical director …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain sustainable genome … understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility. … in human genome research and support its translation into clinical utility. Annotations include gene function, …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… researchers will use to develop high quality, low cost DNA sequencing technology through new grants from the National … available, are the last to be awarded by the Advanced DNA Sequencing Technology program of the National Human Genome … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Hospitalist Medicine Pediatric Oncology Psychiatry/Clinical Neuroscience Psychiatry/Consultation-Liaison …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Further understanding of this risk is a main focus of research of our team. … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective … implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network,  IGNITE I , was a consortium of collaborative genomic medicine pilot …