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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
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 … atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Ibadan, Nigeria. He subsequently held fellowships in genetic epidemiology and in medical education. He moved to Howard University, Washington, D.C. in 2003 to work in genetic epidemiology at the National Human Genome Center at … risk factors for these disorders in populations of African ancestry (African Americans and Sub Saharan Africans). …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… as social and cultural identity, family background and ancestry derived from genomic analyses," said Dr. Green. … use of race and ethnicity in biomedical research. ​ … genetic variation, DNA sequencing, health disparities, race and ethnicity, ancestry … NIH leaders are calling for the scientific …
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 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, … predictors into curation approaches and aim to ensure that ancestry and diversity are adequately addressed in the …
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 …
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.
… workforce demographics, which include race, ethnicity, ancestry; age; gender identity; sexual orientation; … 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 …