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The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Administration (FDA), which approved two gene therapies for the treatment of sickle cell disease. About 100,000 Americans and millions of people … which directly led to the establishment of the NHGRI Center for Genomics and Data Science Research (CGDSR). The …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease … influences of the physical and social environment. For this reason, complex diseases are also called …
Staff
​Lin Lei is a biochemist at NHGRI's Center for Research on Genomics and Global Health. ​
… Lin Lei is a Biochemist at the Center for Research on Genomics and Global Health (CRGGH), National …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. …  … The specific … of UDN are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease … Genes, Autosomal Dominant … Huntington’s disease is a rare inherited disorder associated with the progressive loss of …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to helpful resources: NHGRI Fellowships FAQ Resources for Trainees … The opportunities listed on this page are for … the structure and biology of genomes; the genomics of disease; the implementation and effectiveness of genomic … NIH Funding, NIH Training, NHGRI Funding, NIH Clinical Center … Institutional and individual funding from NHGRI to …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… research. Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his … FS, National Institutes of Health Intramural Sequencing Center Comparative Sequencing Program Authors., NISC … Health Research. … Francis Collins, rare diseases, inherited diseases, Hutchinson-Gilford Progeria syndrome …
Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
… Shirley Freeman is an Intramural Program Assistant for the Center for Research on Genomics and Global Health … under the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch at the National Human Genome Research …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … a set of genomic approaches to implicating rare, inherited variants involving one or a handful of genes that have large effects on an individual's risk for developing rare diseases. These same approaches might …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… chief of genetics at Walter Reed National Military Medical Center and as the chief of cancer genetics at the Murtha … associate professor in pediatrics and the interim director for precision medicine at the Uniformed Services University … Phenotyping Core in the Center for Precision Health Research. He oversees the daily operations of the core and …