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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… workforce demographics, which include race, ethnicity, ancestry; age; gender identity; sexual orientation; … Genomics Heather Zierhut, president, National Society of Genetic Counselors … Wednesday, Dec. 7, 2022, 1:30-2:30 p.m. … of Medical Genetics and Genomics, the National Society of Genetic Counselors, and others. The report concludes that …
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical … Historically Speaking: Next Generation of Black Leaders in Genetic Science … On February 23, 2023, NHGRI and the … Speaking: Next Generation of Black Leaders in Genetic Science." … On February 23, 2023, NHGRI and the …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with … the field. Less than a decade ago, women seeking prenatal genetic testing, such as for a condition like Down syndrome, … sequencing has allowed a totally new approach for prenatal genetic testing, at least for the initial screening test for …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… with MMA and related disorders to learn more about the genetic causes of the various types of these inherited … with MMA and cobalamin disorders to learn more about the genetic causes of these inherited metabolic disorders and the … Disorder, Inherited Disorder, Family Health History, Ancestry, Genetic Disease, Clinical Study, Genetics Study … …
News Release
CRGGH researchers Amy Bentley and Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions on the concentration of serum lipids, including high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), and triglycerides.
… Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions … and loci that were only found among those of African ancestry, highlighting the importance of diversity in gene × … Charles Rotimi have just completed a large-scale, multi-ancestry genome-wide analysis of gene × smoking interactions …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… groups on helping families prepare for a child with a genetic condition Craig et al. J Community Genet . 2023 Apr …  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved … use of population descriptors such as race, ethnicity, and ancestry in genetics and genomics research. The committee …
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 building and … Genome Research at Meharry Medical College centers on the genetic basis of chronic diseases prevalent among African … that complete deficiency of the PLA2R1 gene is a genetic risk factor for sarcoidosis and tuberculosis and that …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions … Panel discussion: A Historical Discussion on Eugenics and Genetic Testing/Screening Panelists: Rebecca Mueller … relevant to their lived experiences?  How do we discuss genetic and genomic variation and its connections to health …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… Carrier Screening … Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, …
… ​Genetic Screening … Genetic screening is the process of testing a population for a genetic disease in order to identify a subgroup of people …