Search Results
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, DNA sequencing, common diseases, rare diseases …
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 …
FAQ
Addressing the COVID-19 pandemic and what it means to the pediatric mitochondrial disease community.
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… 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. …
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 …
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 …
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 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 …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on diseases that are disproportionately distributed by ethnicity … models that explore the patterns and determinants of common, complex diseases in populations in the United States …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… Autoinflammatory diseases are a group of disorders characterized by seemingly … T-cells that are characteristic of autoimmune diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of … individuals with known or suspected autoinflammatory diseases and their family members. Unfortunately, we receive …