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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… factors contribute to disease. Our investigators use genetics and genomic approaches in both human and mouse …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National … of adult disability in this country, yet its underlying genetics have been difficult to understand. Numerous genetic … therapies have not prevented disease, and the genetics underlying high homocysteine levels - and methionine …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive … National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … from underrepresented groups … Overview … Our Research … Genetics and Molecular Biology Branch … The Genetics and Molecular Biology Branch uses genomic …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline … Imperfecta Medscape: Osteogenesis Imperfecta Medscape: Genetics of Osteogenesis Imperfecta … What is Osteogenesis …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait variation into … those traits. Although the foundation of quantitative genetics was laid over a century ago, there continue to be … outreach activities. … Webinar Series: Complex Trait Genetics Following on the heels of NHGRI’s workshop “Advances …