Search Results
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… efforts in the establishment of standards in the use of ancestry and diversity information in clinical genomics and … could be prevented or mitigated if the risk were known Ancestry and Diversity Alice Popejoy Carlos Bustamante Investigate how ancestry information is used in clinical genomics and provide …
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 …
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, …
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 …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… three conditions are more common among people of African ancestry than European and Asian descent. Specific African … to diverse clinical care settings. “Patients of African ancestry might experience better management of high blood …
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 …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… Traits Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in … Research Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in … p.m. Statistical Genetics and Genetic Epidemiology Local Ancestry at the MHC region id asscociated with disease …
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 …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
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 …