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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genetic Architecture of Complex Traits1
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Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, … and the multifactorial causes of genetic diseases in populations. … Genetic epidemiology is a relatively new … interact with the environment in the context of disease in populations. … Educational Resources …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… scientific progress, the terms used to describe human populations have remained stuck in the past. Genetics and … reproducibility of research studies and ensure that all populations benefit from genomic advances. The scientific and …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… endeavor to understand the genetic basis of disease in all populations. But this can only be done by including populations that are the most genetically diverse. … A Global Research Endeavor Studies have shown that African populations contain the oldest and most diverse set of human …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… were developed using data from mostly European ancestry populations, are not effective when used in diverse populations. The new consortium, called PRIMED , will pool … that the scores accurately predict disease across diverse populations. Researchers have used available large-scale …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for … cigarette use and chronic kidney disease in diverse populations. The team collected data from 49,839 … variants and specific diseases in European ancestry populations could be detected in African-American, …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… that sickle cell trait is prevalent among diverse human populations. … National Institutes of Health (NIH) … blood clots, a risk that is the same among diverse human populations that may not traditionally be associated with … or African American, it is not widely studied in other populations, a bias that has led to unintended harm for those …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… patterns and determinants of common complex diseases in populations in the United States and around the world. … … dyslipidemia, and kidney diseases, in different human populations with particular attention to African Americans … the analysis of data generated in Africans and other populations.  Investigate how knowledge and understanding of …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… in NHGRI's Medical Genetics Branch . Although from diverse populations, the participants in the study had some common … Indian subcontinent, the Middle East, South America and sub-Saharan Africa. In addition to the photos, the atlas will …
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.
… polygenic risk scores have not been effective for all populations, the researchers recalibrated these genetic tests … a more accurate assessment of disease risk across diverse populations. Genetic tests look at the small differences … many individuals with ancestry spanning two or more global populations. Strong representation of these individuals is …