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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 …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… to investigate complex diseases in the context of diverse populations and the accompanying spectrum of variation in … traits, particularly serum lipids, in African ancestry populations. She also focuses on the complex interplay … in order to support the inclusion of African ancestry populations in such efforts. Dr. Bentley is very motivated by …
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. … …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… susceptibility to the disease in sub-Saharan African populations. The gene could also influence the development of T2D in other populations and inform further research. In a study published … have already implicated in T2D in mostly European ancestry populations. The work was funded by the National Human Genome …
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 … through pragmatic trials in diverse and underserved populations across Indiana Todd Skaar, Ph.D., Indiana … Implementation Research in the Diverse Settings and Populations of New York City Carol Horowitz, M.D., M.P.H., …
Research Training
This program provides doctoral and medical graduates the opportunity to use genomic approaches to advance the growing area of health disparities research
… or behavioral research related to health disparate populations and the medically underserved, but also strives … African Americans, Hispanic Americans, American Indians/Alaska Natives, Native Hawaiians, Pacific Islanders and individuals with …
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 …
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 … to the Atlas of Human Malformation Syndromes in Diverse Populations , which they launched last year to help … the study Kruszka P, et al. Noonan syndrome in diverse populations . Am J Med Genet A, 173(9):2323-2334. 2017. … …