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Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… and heart disease usually stem from a complicated mix of genetics and lifestyle. While changes in many genes … DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such variation affects gene activity, Fernando Pardo …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… National Institutes of Health researchers and their collaborators identified 13 new gene regions that influence cholesterol levels, some of which … Human Genome Research Institute's Center for Research on Genomics and Global Health (CRGGH) . "This discovery will …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… untreated, it can lead to severe organ damage. Caucasians of northern European descent are at highest risk. An … food via the intestines. When there is an adequate amount of iron, the body reduces its absorption to avoid excessive … cancer, diabetes, heart disease and joint disease. The gene that causes hereditary hemochromatosis, called HFE, was …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a … powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is … technologies. The NIH study was published February 1 in Genomics in Medicine . "One of our goals was to improve upon …
Policy Issues
This glossary contains definitions for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and Legislative Database.
… for commonly used terms (such as "bill", "statute", "regulation" and more) found in the Genome Statue and … proposed laws or proposals to repeal laws in one house of a legislature. Bills are generally designated by the house … in chronological order). The text of the original law or regulation is collated with any subsequent amendments …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of distinguishing variants that cause disease from those that … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Programs supported by the National Institutes of Health are establishing which genes and genomic variants … genomic medicine into healthcare, which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation …
15 Ways Genomics Influences Our World
Genomics is altering a genome with unparalleled efficiency and precision.
… Genomics is altering a genome with unparalleled efficiency … we have decoded (that is, read out) the genome sequence of an organism, a logical next step would be to "edit" that … that they could borrow tools from the immune system of bacteria  and develop "bacterial scissors" for surgically …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through multiple funding … creating data resources and tools. The specific activities of the Genome Sequencing Program since the end of the HGP reflect changes in the scientific questions that …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes. … Gene Expression, Gene Variation, DNA, Genes … Epistasis is a circumstance where the expression of one gene is modified (e.g., masked, inhibited or …