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Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… She has used different strategies to study the complex molecular basis of metabolic disorders including … healthy obesity (MHO) and microbiome in health and diseases. Curriculum Vitae … Selected Publications Doumatey … on Genomics and Global Health, genetic epidemiology, complex diseases, inflammation … Ayo Doumatey, Center for …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed …
Event
Future Webinar Series
… NHGRI’s workshop “Advances in the Genetic Architecture of Complex Human Traits” is a seminar series picking up where … challenges for delineating and understanding human complex trait genetics.   Format A series of one-hour live … … Zoom Webinar (Registration Required) … Webinar Series: Complex Trait Genetics … Future Webinar Series … Future …
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 …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… will be providing DNA sequencing for the Undiagnosed Diseases Network (UDN). Each site will receive more than $2.5 … Genome sequencing for patients from the NIH Undiagnosed Diseases Program (UDP) has identified individual variation in … potential treatments for patients with these rare or new diseases. Recipients of the new NIH awards to study gene …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … can be difficult to decipher because they result from a complex combination of genomic influences and environmental …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… Steven Benowitz … The Undiagnosed Diseases Network (UDN), a clinical research initiative of the … diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they … been described or are unrecognized forms of more common diseases. … The new system streamlines the application …