Search Results
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… mutations and variations and ranks them according to their clinical and biological relevance to a patient's cancer. … guide individualized patient treatment or enrollment in clinical trials that test a therapy aimed at a particular … Nature Medicine . Their work is supported by the Clinical Sequencing Exploratory Research program at the National Human …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… The National Human Genome Research Institute's Genome Sequencing Program Coordinating … funded in 2016 to coordinate activities across the Genome Sequencing Program components. … and administrative activities including: Tracking genome sequencing and analysis costs; data production and …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … At the National Institutes of Health, we are interested in research. Although we are happy to provide advice for people … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations and their … NIH RUNX1-FPD Clinical Research Study Introduction and Q&A Webinar July 9, …
News Release
NHGRI appointed Carolyn Hutter, Ph.D., director of the Division of Genome Sciences, which researches human genome function in health and disease.
… The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, … of Genome Sciences - the NHGRI division that leads research aiming to understand the function of the human … and genome sequencing, which included grants in the Clinical Sequencing Exploratory Research (CSER) program. She …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in … to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake novel, … Genome Sequencing Program Analysis Centers … to harmonize, access, and analyze the data produced by the sequencing centers. ​ …
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 …
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 …
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 …