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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 …
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 …
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.
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 … structure and function of gene products leading to human disease. … A major focus of the branch's research lies in … signaling pathways and transcription factors contribute to disease. Our investigators use genetics and genomic …