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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
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 … are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely … often, clinicians and researchers studying a family with a rare disease encounter DNA mutations or variants that appear …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …
Event
NHGRI commemorates the life and legacy of genomics champion Representative Louise M. Slaughter (D-N.Y.), who passed away in March 2018, by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her honor.
… in the House of Representatives that created National DNA Day, which celebrates the completion of the Human Genome … away in March 2018 - by naming an annual National DNA Day lecture at the National Institutes of Health (NIH) in her … … MD … 10 Center Drive … Louise M. Slaughter National DNA Day Lecture … NHGRI commemorates the life and legacy of …
News Release
Check out this video from NHGRI Director Eric Green talking about the importance of knowing your family health history.
… recognized Thanksgiving as National Family Health History Day. … A Message from the Director This year, the National … to identify the differences in genes that may increase disease susceptibility. Until then, family health history is … join NHGRI in celebrating Family Health History Day! … Check out this video from NHGRI Director Eric Green …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … Alliance Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… to investigate the pathophysiology of these new and rare diseases. In 2008, the NIH Undiagnosed Diseases Program … (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center to … that this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
… Children affected by mitochondrial disease have impaired oxidative phosphorylation (OXPHOS). … nearly all cells of the body, children with mitochondrial disease can have multisystemic problems, especially in organ … a lot of energy. For example, pediatric mitochondrial disease often affects the brain, which may cause children to …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and … diagnoses and potential treatments for patients with these rare or new diseases. Recipients of the new NIH awards to … conditions entails, to identify new disorders or rare presentations of known diseases and to shed light on the …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. Dr. … genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … Dr. ​Adam Felsenfeld is a program director in …