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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – … ClinGen Missense Variant Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes … and Implementation of the Association of Professors of Human and Medical Genetics Updated Core Competencies for …
Event
On January 11, 2021, NHGRI and The George Washington University organized an interactive webinar.
… On January 11, 2021, the National Human Genome Research Institute (NHGRI) and George Washington … webinar, The Impact of COVID-19 in the Context of Society and Biology. The webinar addressed the following questions: What makes COVID-19 more dangerous for some individuals and communities than others? What does …
Timeline
A timeline highlighting key moments in the development of eugenics, with a focus on the American eugenics movement.
… support the idea of “racial improvement.” In their quest for a perfect society, eugenicists labelled many people as “unfit,” … in the development of eugenics, with a focus on the American eugenics movement. … Additional Resources … …
About Genomics
An interactive timeline listing key moments from the history of the project.
… and values of NHGRI. … Completed in April 2003, the Human Genome Project gave us the ability to read nature's complete genetic blueprint for a human. This interactive timeline lists key moments from … and address the implications for individuals and society of mapping and sequencing the human genome. 1990 …
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.
… pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … their team reported their findings March 20, 2014 in PLoS Genetics. The investigators were supported by the National Human Genome Research Institute (NHGRI) Genomics and …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… … Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may … analysis to all chromosomes allowed us to identify risk for serious complications and potentially reduce … of the study and head of the division of reproductive genetics at Victorian Clinical Genetics Services, part of …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… the disease has not been extensively described. As for the childhood form of Tay-Sachs, there is no cure. … results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of … 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.
… Genetically Modified Organism (GMO) … GMO (short for “genetically modified organism”) is a plant, animal or … to alter the characteristics of an organism. … GMO (short for “genetically modified organism”) is a plant, animal or … GMOs may be used for a variety of purposes, such as making human insulin, producing fermented beverages and developing …
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.
… syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … for WAGR Syndrome International WAGR Syndrome Association American Kidney Fund, Inc. American Cancer Society, Inc. American Childhood Cancer Organization Aniridia …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… condition. This means that many people with ADPKD live for decades without developing symptoms of renal functional … of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund National Kidney Foundation ARPKD/CHF …