Search Results
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
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 …
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 … mentor(s) are funded by NHGRI. NHGRI does not support disease-specific research. Important Dates: Application Due … NIH Funding, NIH Training, NHGRI Funding, NIH Clinical Center … Institutional and individual funding from NHGRI to …
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 …
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 …
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
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 …
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 …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … RNA structure can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … water checked for copper content. … Yes. Wilson disease is inherited in what doctors call an autosomal (not on the X … Clearing House Genetic and Rare Diseases Information Center Gene Tests Genetic Alliance National Organization for …