Search Results
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.
… Identifier: NCT00001373 . … 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 …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … treatment of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: … investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… affects one in every 50,000 to 100,000 people, but is more common in people of Ashkenazi Jewish ancestry. There are … such as bone pain, fractures and arthritis. The less common Types 2 and 3 affect the central nervous system and … an important genetic risk factor for developing the more common disorder Parkinson's disease. NHGRI also coordinated a …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common disorders." ECD is caused by the accumulation of … by oncologists, researchers wrote. Until now, the most common treatment for ECD has been interferon , a drug that …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  … is investigating the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
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 …
Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Development Programs, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research interests include increasing … genomics training, Undiagnosed Diseases Network, NIH Common Fund … Heather Colley, genomics careers, genomics …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… can use to study how inherited changes in genes lead to common diseases. It will establish a database and a tissue bank that … as planned for GTEx. GTEx is funded through the NIH Common Fund, which supports innovative projects involving …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of … Nir Hacohen, Ph.D. To understand the DNA drivers of common human diseases (using immune diseases as test cases), … plan to analyze how DNA variants that are associated with common immune diseases cause individuals to differ in their …