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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.
… 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, …
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.
… GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum … 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 …
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 …
Virtual Exhibit
The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… diseases, such as Crohn's disease and irritable bowel syndrome. "The plan is to use this as a model to investigate … interested they are in collaborating," she said. Marc S. Williams, M.D., director of the Genomic Medicine Institute at … portals all tied to a single governmental identifier." Dr. Williams noted several innovative efforts in …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Inborn Errors of Metabolism, cystinosis, Hermansky-Pudlak syndrome, Undiagnosed Diseases Program Fizza Gulamali-Majid, … Wendy Introne, M.D. Alkaptonuria, Chediak-Higashi syndrome Eirini Manoli, M.D., MPH Organic acidemias, Moebius syndrome Melissa Merideth, M.D., MPH Gynecologic aspects of …