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BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… As an example, the researchers investigated the lactase gene, which encodes a protein that helps digest lactose and … panel, they analyzed how a genomic variant of the lactase gene is related to traits such as height, body mass index and … the researchers say it’s likely that there are other false associations in the literature and that some true …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… measures Level 3: Analysis to identify genetic variants, gene expression patterns, or other features of the data set … and for what purposes (e.g., general research use, disease-specific research use) and whether sharing will occur …
Educational Resources
Positional cloning is a laboratory technique used to locate the position of a disease-associated gene along the chromosome.
… is a laboratory technique used to locate the position of a disease-associated gene along the chromosome. … Candidate, Gene, Chromosome, Contig, Deoxyribonucleic Acid (DNA), Gene, …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… tend to occur together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… Candidate Gene … A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… research determining the effect of genetic variation on gene function and identifying primary targets for potential … potential therapeutics for the rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of … knowledge gained from studying these multi-organ genetic associations to classify subtypes of T2D for the …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes … (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to …
Event
NSIGHT explores the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … of the regulatory consequences of variants, and modeling gene regulation Co-Chairs: Trey Ideker Christina Leslie 12:30 … of Genome Variation, Including Beyond Single Variant/Gene Panel: Nadav Ahituv Dana Crawford Neville Sanjana …