Search Results
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, Linkage … used to locate the position of a disease-associated gene on a chromosome. Such a strategy can succeed even when …
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
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. … X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … tend to occur together and are associated with a specific disease. …
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, Traits, Disease, Linkage Analysis … The term candidate gene refers to a gene that is believed to be related to a …
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.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome …
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 … kinase signaling and the search for the IL2Rg gene. In 1993, he moved to the NHGRI Intramural Research … potential therapeutics for the rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of …
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 …
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.
… 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.
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… influence the risk of developing Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. … N., Tiwari, H. K., and Allison, D. B. 2007. Detection of gene × gene interactions in genome-wide association studies … Ramos, E., Chen, G., and Rotimi, C. N. 2011. Mapping of disease-associated variants in admixed populations. Genome …