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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 …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… cause common periodic fever have spread in Mediterranean populations over centuries, potentially protecting people … plague. … Researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory … have been positively selected for in Mediterranean populations over centuries. The findings were published in …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… genetic changes, known as variants, are distributed among populations and how they lead to increased risk. Functional …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… to study health and disease in ancestrally diverse populations. … While single ‘omic analyses have produced … and standards that can be generalized across diseases and populations. It will also generate a standardized and … to study health and disease in ancestrally diverse populations. By leveraging disease contexts where multi-omic …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.
… for a DNA sequence found in different frequencies between populations from different geographical regions. … Ancestry, … that appear in substantially different frequencies between populations from different geographical regions of the world. … for a DNA sequence found in different frequencies between populations from different geographical regions. … …
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… Coordinating Center (CC) involving diverse settings and populations to conduct pragmatic clinical trials of genomic … L1 (APOL1) genetic risk information to hypertensive African ancestry patients and their primary care providers on … through pragmatic trials in diverse and underserved populations across Indiana Todd Skaar, Ph.D., Indiana …
News Release
Quartz Africa has selected Charles Rotimi, Ph.D., for its list of innovators, which comprise "the most ambitious and imaginative minds on the continent."
… passion for studying the genomics of Africans and those of African descent worldwide. … Related Content … Quartz Africa …
Diversity Center
Meharry Medical College establishes a Diversity Center for Genome Research (DCGR) that will narrow inequitable representation gaps for underrepresented, disadvantaged minority by realizing their vision to promote African ancestry genomic research through infrastructure building and the formation of basic, clinical, and computational science research teams that are inclusive, interdisciplinary, and community-engaged.
… gaps for URM by realizing our vision to promote African ancestry genomic research through infrastructure … supporting academic excellence in genomics research of populations with African ancestry. Promote research collaborations and …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… a population. Though it primarily affects small, isolated populations, the effects of genetic drift can be strong, …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. The following questions were answered during the meeting.
… not reflect the value of PRS. Careful evaluation of the populations of reference that gave rise to the PRSs used in a … history of the harms that have been incurred by high-risk populations who bear the burden of disease in this country. … individuals, include misrepresenting or misclassifying populations, or de-emphasizing differences across people when …