Search Results
Clinical Research
El Programa de Enfermedades no Diagnosticadas (UDP) proporcionar respuestas a los pacientes con afecciones misteriosas que han eludido el diagnóstico durante mucho tiempo.
… Bill Gahl receives HHS award 2019 September 19, 2019: Undiagnosed disease program finds novel genetic variant UAB News 2018 September 24, 2018: The NIH Undiagnosed Diseases Network adds five new sites 2017 March 15, 2017: …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Research Funding
A list of division and program directors for research program funding at the National Human Genome Research Institute.
… Related Content … Division and Program Directors … A list of division and program directors for research program funding at the National Human Genome Research …
News Release
Researchers, clinicians, and computational biologists meet to consider future opportunities for NHGRI's Genome Sequencing Program.
… Research Institute's (NHGRI) flagship Genome Sequencing Program (GSP) at a July 28 - 29 meeting in Bethesda, Md. … … community. Informed by the input received before the last program renewal (2012), the GSP was downsized by 20 percent … genes involved in Mendelian disorders (rare, inherited diseases typically due to a mutation in a single gene). New …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… only genes suspected to be linked to human genetic diseases will be knocked out, in collaboration with the Undiagnosed Diseases Network. All the known genes linked to … is the deputy director of NHGRI's Intramural Research Program. … Shawn Burgess, gene function, zebrafish, genetic …
Research Funding
NHGRI's programs and projects support research in one of six domains to advance the field of genomics and improve human health.
… field of genomics and improve human health. … $1000 Genome Program Genetic Association Information Network (GAIN) … and Public Health (NSIGHT) The Cancer Genome Atlas (TCGA) Undiagnosed Diseases Network (UDN)  … Completed Projects … …
Research Funding
The Genomic Variation Program supports large-scale studies of human genetic variation.
… a person has a higher or lower risk for getting particular diseases. Variants in single genes cause some traits and diseases, such as the ABO blood group and cystic fibrosis. … variants at nearby sites are on the same chromosome. The program also seeks to relate there genetic variants to …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute and … or stress. Otulipenia is one of several inflammatory diseases that occur when the immune system attacks the host's …