Search Results
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 …
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.
… has been a mystery - until now. … 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 …
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 which they are first introduced ("H" for House of Representatives, "S" for Senate) and numbered in order of …
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.
… Jeannine Mjoseth … 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 …
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 … focus on several key areas, such as study design, gene- and variant-level implication, databases and … Biesecker, M.D., co-author and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch. "The peer review …
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 … virus to start replicating again. As scientists working on gene therapy for many years have found, there are also …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… Mjoseth … Programs supported by the National Institutes of Health are establishing which genes and genomic variants … which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation … developed by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology to …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… regulations may not require informed consent for all kinds of genomics research (e.g., if the samples or data are … biological products and devices. When the Common Rule regulation was revised in 2018 , it introduced a number of …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Prabarna Ganguly, Ph.D. … The Mendelian Genomics Research Consortium will include five centers and a data coordination site. … The National Institutes of Health will award nearly $80 million to support the … help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been …