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Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… studies to date have examined individuals of European ancestry. Because of this issue, there may not be adequate … beyond polygenic risk scores. The percentage  of ancestry populations included in large-scale genomic studies … risk scores may only be valid and useful for European ancestry populations. More research is needed to derive the …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of thalassemia are called … individuals of Southeast Asian, Chinese and Filipino ancestry, results in fetal or newborn death. A child who …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… the collected data was mostly from people of European ancestry (due to limited availability of diverse datasets … risk scores were also applicable to people of African ancestry, which was confirmed through analyzing data from …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… sampled over 300 dogs to characterize their genetic ancestry and found large, complex families of dogs living in …
Diversity Center
Tuskegee University establishes the Carver Genomic Research Center.
… The purpose of this study is to determine whether genetic ancestry play a role in gene expression, genomic landscapes … We aim to explore the association of African genetic ancestry in admixed-African breast cancer patients. We …
Research Funding
The three research domains to be considered for support by the NHGRI Ethical, Legal and Social Implications Research Program.
… social inequities. How concepts of race, ethnicity and ancestry have been (and are currently) used in genomic … genomics on the conceptualization of race, ethnicity and ancestry across diverse individuals and groups. How genomic … direct-to-consumer (DTC) companies that offer genetic ancestry testing and other genomic services, law enforcement, …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… AP, Chen G, et al. Variation in APOL1 Contributes to Ancestry Level Differences in HDLc-Kidney Function … associated with boday mass index in individuals of African ancestry. Nat Genet: 2013 Jun.; 45(6):690-696: PMID:23583978 … wide association of body fat distribution in African ancestry populations suggests new loci. PLoS Genet: …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… data from admixed groups and individuals of African ancestry has enhanced approaches to finding genomic variants for complex traits and uncovered ways in which ancestry can influence genetic findings. Over the last …
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.
… which were developed using data from mostly European ancestry populations, are not effective when used in diverse …