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News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
… Clinical applications of genomics in neurology and psychiatry … lecture series sponsored by the National Human Genome Research Institute (NHGRI) in collaboration with Suburban … the importance of translating genomic science into clinical care. "Physicians are inspired by genomics but need …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… our COEH cohort and better characterize the vascular and clinical phenotype of gene variant carriers.    Severe … by more severe multisystem dysfunction. Despite decades of research, the underlying reasons why some children develop … diagnostic targets to improve the safety of this important clinical intervention.  …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic … A major focus of the branch's research lies in understanding how disruptions in signaling … of these investigations. Ongoing efforts include research aimed at understanding genetic contributions to a …
Staff
Shawneequa Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health.
… is an Associate Professor with tenure in the Department of Clinical Research and Leadership at the George Washington University … has also served as a Special Volunteer at the Center for Research on Genomics and Global Health at the National Human … Callier is a special volunteer at NHGRI's Center for Research on Genomics and Global Health. …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… now have access to a variety of educational and clinical genomics resources thanks to a new partnership between the National Human Genome Research Institute (NHGRI), part of the National Institutes … Society of Genetic Counselors , the American College of Clinical Pharmacy , and The Jackson Laboratory are the first …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the … are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five percent of …
About NHGRI
The National Advisory Council for Human Genome Research provides expert advice on genetics, genomics research, training and programs to NHGRI and the NIH.
… The National Advisory Council for Human Genome Research (NACHGR) advises the Department of Health and Human … Institutes of Health (NIH), and the National Human Genome Research Institute (NHGRI), on genetics, genomic research, training and programs related to the human genome …
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.
… to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, funded primarily by the National Human Genome … in their studies. This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working …
Research Funding
Policies and guidance regarding research funding from the NHGRI and the National Institutes of Health.
… federal agency responsible for biomedical and behavioral research and research training. As such, it is accountable to Congress and … the general public for responsible stewardship of federal research dollars. Sound management of research funds requires … Policies and guidance regarding research funding from the National Human Genome Research …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… look like? We tailor study activities to meet clinical needs and a patient’s ability to participate, so … need to travel to the National Institute’s of Health (NIH) Clinical Center for a more detailed clinical evaluation. … for parents of affected children Leukapheresis (rare) Research bone marrow aspiration and biopsy (rare; age 12 or …