Search Results
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for … funds. They are administered by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute, … related approaches in genome sequencing studies of both rare and common diseases. The following grants have been …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP ). We accept … family members, giving a stronger indication of genetic disease; however, we will also consider individual patients. … Ivona Aksentijevich if you would like to further discuss research opportunities. … FAQ for Providers and Researchers … …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… $100 million. … Expanding the Network The UDN is a research study developed to improve and accelerate the diagnosis of rare and undiagnosed conditions. The grants will expand the … to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature … researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Lewy Bodies (named after the doctor who first found them). Research has shown that there is a large amount of … before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson's disease. A small …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … who is neither affected nor a carrier. NHGRI Clinical Research on Gaucher Disease Research on Gaucher disease and …
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.
… several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … of patients have clinical features of autoinflammatory disease without a good explanation. Our goal is to discover … undiagnosed causes of autoinflammatory disease. … Clinical Research …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … of cardiovascular diseases. In addition, they conduct research related to the effects of social determinants on …
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.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma … generate a standardized and harmonized dataset for general research use available through controlled-access processes as …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … mission to understand, prevent, detect and better treat disease. In some cases, research participants may also gain … The Clinical Center hosts a wide range of studies from rare diseases to chronic health conditions, as well as …