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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 …
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, …
News Release
The National Academy of Medicine elected Dr. Charles Rotimi, CRGGH Director, as one of its new members.
… For groundbreaking research in African and African ancestry populations, providing new insights into the genetic …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… information about their genetic information (generally ancestry, some health traits and health risks) from a saliva … the support of a qualified healthcare professional.  For ancestry results, DTC-GT may reveal a genetic relationship to … do not cover all ethnic populations equally; therefore ancestry results for underrepresented minority populations …
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 …
Research Training
The FLAGSHIP program aims to train early career postdoctoral scientists to become future leaders in genomic sciences research.
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 …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a …