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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- 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
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Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… and specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. … … Adam Felsenfeld, genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… applicants due to the complex nature of the body and the diseases being investigated. However, they do fully review … with undiagnosed diseases through the development of common protocols designed by a large community of … the Undiagnosed Diseases Network (UDN) transitioned from Common Fund leadership. The UDN is now led by The National …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at … , and abdominal wall hernias. Hypertension is the most common problem as a result of ADPKD. About half of … National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
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 … been described or are unrecognized forms of more common diseases. … The new system streamlines the application … support and joint leadership for the network via the NIH Common Fund. "The UDN Gateway will provide patients and their …
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 … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and …
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 … be studied in zebrafish. The UDN is funded through the NIH Common Fund, which supports cross-cutting programs that are …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… and better understand pathways involved in human genetic diseases and normal development. Model systems, including … understanding genetic contributions to a number of human diseases, particularly those affecting the nervous, immune …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… practices, and standards that can be generalized across diseases and populations. It will also generate a … diverse populations; 2) persons with and without specific diseases; 3) harmonized and standardized phenotypic and …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.