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News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… interventions to improve management of diseases such as high blood pressure, depression and chronic pain. The trials are part of …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… liver and problems in other organs, such as the heart and blood vessels in the brain. … ADPKD is usually an adult-onset … abnormalities of blood vessels (vascular system) such as high blood pressure (hypertension) intracranial and aortic aneurysms, …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… hypercholesterolemia is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol … hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol … However, if too much cholesterol is present in the blood stream, it builds up in the wall of the arteries and …
Educational Resources
A trait is a specific characteristic of an organism.
… (such as eye color) or quantitative (such as height or blood pressure). A given trait is part of an individual’s overall …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… characterization of variants underlying heart and blood diseases with CRISPR base editing HG012010 Charles … Gersbach Gregory Crawford Tim Reddy Duke University High-throughput functional annotation of gene regulatory … of genomic variation on genome function and phenotype  High-resolution identification of where and when genes and …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in … athletic outcomes. They include genes that regulate blood pressure, muscle size, oxygen use and fatigue …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… anemia also run in families. For example, if a parent has high blood pressure, his or her child is more likely to have high blood …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… associated with the syndrome are a narrowing of the large blood vessel that carries blood from the heart to the rest of the body ( supravalvular aortic stenosis ) and high blood pressure. The cover of this month's issue of the American …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… I (ß2GPI, a normal protein found in the blood whose function is unknown) and another molecule known … noted in association with APS. Pulmonary hypertension (high blood pressure in the arteries that supply the lungs) and …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… and faith-based institutions in the area. Given the high burden of CVD among AA, this approach will yield a … that includes: medical evaluation (e.g. anthropometrics, blood pressure), laboratory tests (e.g. lipid levels, kidney …