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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 …
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 …
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 …
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
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… to genomics. The Bonham group also studies sickle cell disease, a condition impacted by emerging curative genomic … group also studies sickle cell trait and sickle cell disease, a condition that affects 100,000 people in the … is the Democratizing Education for Sickle Cell Disease Gene Therapy , which was launched in 2022 to provide …