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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… on the development of new therapies for patients with genetic disorders. … The research conducted in the Metabolic … create mouse models to test novel small molecules to treat genetic skeletal diseases. They use contemporary genetic and genomic techniques to identify new genes, study …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.
… to make important life and health decisions, as well as ancestry and race. To recruit survey takers, NHGRI is using …
Event
The Division of Intramural Research (DIR) sponsors a monthly series of talks by intramural and special guest speakers celebrating genetics and genomics research.
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and … Women often request noninvasive screening tests to detect genetic conditions. These tests, however, typically focus … reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope to … Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms. ​ … Sickle … Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms. … News Release …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… where he collaborates on several projects involving genetic risk communication. His main appointment is as … psychological functioning. In recent work, he has studied genetic testing decisions. Dr. Klein's work has appeared in … member of the Executive Committee of the joint NIH/Hopkins Genetic Counseling graduate program, where he teaches a …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… from Howard University. She has conducted research on genetic epidemiology of metabolic disorders especially … and obesity-related traits in populations of African ancestry. One of her research interests is to understand the … 6. doi: 10.1002/art.40541 Pattaro C…, Doumatey A, et al. Genetic associations at 53 loci highlight cell types and …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… management and analysis. She has applied her SAS skills to genetic epidemiology, clinical trials, and biotechnology. She … Zhou J, McLeod H, Adeyemo A, Rotimi CN. Pharmacogenomics, ancestry and clinical decision making for global populations. … participation and comprehension of informed consent in a genetic epidemiological study of breast cancer in Nigeria. …