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Educational Resources
A virus is an infectious agent that occupies a place near the boundary between the living and the nonliving.
… the living and the nonliving. … Acquired Immunodeficiency Syndrome (AIDS), Bacteria, Cell, Deoxyribonucleic Acid (DNA), …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… DATA Scholars Program, DSI-Africa, ClinGen, Long QT Syndrome … In the March 2020 edition of The Genomics …
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.
… (RA); systemic lupus erythematosus (SLE), Sjögren’s syndrome, major histocompatibility complex (MHC), biological …
Event
On November 5-9, 2024, 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.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… of proteins and clinical phenotypes 1135W Ariel Williams SGLT2 Inhibitors Attenuate Risk of APOL1-mediated … – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … Data for Better Participatory Research Co-moderator, Ariel Williams Room 405 Colorado Convention Center Wednesday, …
Diversity Center
The University of Texas Rio Grande Valley (UTRGV) has established a Diversity Center for Genome Research that will build UTRGV’s genomics research capacity by 1) expanding genomic research capabilities and discoveries in two innovative research projects; and 2) enhancing the size and quality of the available genomics workforce.
… genomics research.   … Administrative Cores Lead: Sarah Williams-Blangero, Ph.D. The Administrative Core (AC) will … the center.   Workforce Development Core Co-Leads: Sarah Williams-Blangero, Ph.D. and Jacob Galan, Ph.D. The Workforce … in genetics.  Community Engagement Core Co-Leads: Sarah Williams-Blangero, Ph.D., and Jacob Galan, Ph.D. Mexican …
The Genomics Landscape
In the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… their genetic condition. The researchers focused on Williams syndrome and Angelman syndrome, both of which have characteristic facial features …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
Staff
Alanna Kulchak Rahm, is a certified genetic counselor, implementation scientist, and Program Director in the Division of Genomic Medicine.
… SY, Lowery J, Lu CY, Pawloski PA, Schlieder V, Sharaf RN, Williams MS, Rahm AK . I dentifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence … TJ, Clegg K, Kirchner HL, Hu Y, Cawley D, Norelli V, Williams MS, Gidding SS, Rahm AK . Using implementation …
Partner with NHGRI
NHGRI's technologies, inventions and discoveries are available for licensing.
… … Mouse Models Mouse Model of Hutchinson-Gilford Progeria Syndrome and Vascular Abnormalities DHHS Reference No.: …
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.
… G, Jarvik GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Williams MS. Genomic medicine year in review: 2023 . Am J Hum … atrial fibrillation Germline genomic screening for Lynch syndrome in the US is approaching cost effectiveness  Read … GP, Mensah GA, Ramos EM, Relling MV, Roden DM, Rowley R, Williams MS. Genomic Medicine Year in Review: 2022 . Am J Hum …