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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the … and treatment of disease. … Human Genome Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… included a new name: the Talking Glossary of Genomic and Genetic Terms . First launched in 1998, the talking glossary … . To date, the new Talking Glossary of Genomic and Genetic Terms has 222 terms, of which 142 have new … coming months. The NHGRI Talking Glossary of Genomic and Genetic Terms is only one of a collection of remote-learning …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… mutations across the genome, the entire set of genetic instructions found in a cell. Non-invasive prenatal … genome sequencing. Credit: Ernesto del Aguila III, NHGRI. Genetic counselors can provide parents guidance, but there … and clinicians will need to play a bigger role in counseling pregnant women, according to the researchers. Even …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Genome (ClinGen) Resource  under their recent Public Human Genetic Variant Database guidance. This program is part of an FDA effort  to provide genetic test developers access to consistent, … and Genomics (ACMG). ClinGen has collected information on genetic variants across the genome, developed consensus …
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… Genomics Heather Zierhut, president, National Society of Genetic Counselors … Wednesday, Dec. 7, 2022, 1:30-2:30 p.m. … of Medical Genetics and Genomics, the National Society of Genetic Counselors, and others. The report concludes that … areas of work for employed respondents include genetic counseling, research and academia. Women made up the majority …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions … Panel discussion: A Historical Discussion on Eugenics and Genetic Testing/Screening Panelists: Rebecca Mueller … connections between the eugenics movement and genetic counseling, as well as charting the development of …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical … Historically Speaking: Next Generation of Black Leaders in Genetic Science … On February 23, 2023, NHGRI and the … Speaking: Next Generation of Black Leaders in Genetic Science." … On February 23, 2023, NHGRI and the …
Educational Resources
A proband is an individual being studied or reported on.
… on. … Birth Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, Family History … A proband is an …