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About Genomics
Appropriate use of population descriptors in scientific research is critical for the advancement of genomic science and human health for all.
… benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics … Read the Report: Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research … of population descriptors, their relation to genetic ancestry, their use in society throughout the last few …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… reveals that use of the term “race” has declined, while “ancestry” and “ethnicity” have increased. … National … use to describe human populations — such as race, ancestry, and ethnicity — significantly changed from 1949 to … has increased over time. Geographic-based terms like “African,” “Asian” and “European” are also on the rise. …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics …
Fact Sheet
Diversity among genomics research participants is essential for improving the health of everyone.
… for their DNA to be used for research are from European ancestry, making many populations from across the globe … to lowest): 78% European; 10% Asian; 8.5% Unreported; 2% African; 1% Hispanic; and 0.5% Other Countries The … Health in Africa (H3Africa) (2012 - 2022) The largest pan-African genomic research consortium that investigates the …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… and descriptions of people with the same condition and ancestry. … Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics … in Africa. "We found ourselves struggling to diagnose the African children," Dr. Kruszka said. "We were doing our best …
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.
… more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology from … the scores often heavily overrepresent people of European ancestry. “Recently, more and more studies incorporate multi-ancestry genomic data into the development of polygenic risk …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… (a fat or fat-like substance in the blood) in people of African ancestry. The researchers investigated whether smoking … participants in the study's first stage, 23,753 were of African descent. Of the 253,467 total participants in the …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of Southern California** … Schaid Polygenic Risk of Disease in Populations of Diverse Ancestry UNC-Chapel Hill Yun Li*, Alexander Reiner, Nancy Cox … Across the Life-Span in Populations of Diverse Ancestry University of California, Los Angeles Bogdan …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… on PBS’s “ Finding Your Roots .” This series explores the ancestry of people from diverse backgrounds, taking viewers … data usage and sharing policies that are specific for the African research context. NHGRI plans to participate in the … the development of genomics research capacity on the African continent. … In November 2019, the American College …
Staff
Dr. Meeks is a Research Fellow at the Center for Research on Genomics and Global Health.
… (Windhoek, Namibia) and the UNICEF Eastern and Southern African Regional Office. Before transitioning to Research … diseases in underrepresented populations, in particular African-ancestry populations. These innovative designs include …