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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
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
…  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us Cohort P058 Design of the Prospective …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… countries address their public health challenges in genetic diseases. This will ultimately help build healthier … medicine worldwide, as it provided new insights into the genetic contributions to disease. Many scientists and … conditions on the world’s most vulnerable populations. … Genetic disorders, both monogenic and polygenic, contribute …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Ibadan, Nigeria. He subsequently held fellowships in genetic epidemiology and in medical education. He moved to Howard University, Washington, D.C. in 2003 to work in genetic epidemiology at the National Human Genome Center at … risk factors for these disorders in populations of African ancestry (African Americans and Sub Saharan Africans). …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… also studied health care professionals’ understanding of genetic variation, using the GKAI scale, which he developed, … to measure their knowledge, beliefs, and attitudes about genetic variation. This research examines clinical decision … … Vence Bonham, health disparities, race and ethnicity, ancestry, genetic variation, sickle cell trait, sickle cell …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into … clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Ellen Sidransky, clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Dr. Ellen Sidransky is a pediatrician and …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie L. Lewis, Sc.M., C.G.C. … Katie Lewis is a genetic counselor in the Genomic Services Research Program (GSRP). She got her degree in genetic counseling from the Johns Hopkins University/National … and Related Disorders. She has worked at the NIH as a genetic counselor for eight years. Katie does research on …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… from the University of California, Berkeley; a D.Sc. in genetic epidemiology from the Netherlands Institute for … Inflammatory Disease Genomics Branch. … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid … complex (MHC), biological pathways, genetic ancestry, epigenetic factors … Lindsey Criswell, who became …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, … in the section has been to discover the causes of genetic diseases. Over the years, section members have …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral … questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included … behavioral constructs such as the psychosocial impact of genetic disease, patient attitudes and beliefs, …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… on translational research determining the effect of genetic variation on gene function and identifying primary … process for FDA approval. In the context of complex genetic disease, Dr. Erdos is using multi-omics analyses to … Type 2 Diabetes (AMP-T2D) consortium. … The application of genetic, genomic and functional biology approaches are …