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Event
On November 1-5, 2023, 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.
… at ASHG links (PDF) ENCODE at ASHG schedule (PDF) Carles Rotimi, Ph.D., NHGRI Debra Murray, Ph.D., Baylor College of … Staff Title Location November 1, 2023, 12:00 - 3:00 p.m Charles Rotimi Accelerating Genomics in Africa: Moving … sessions, industry partners and much more! Use the app to n etwork with other attendees and speakers with in-app …
News Release
NIH researchers researchers and collaborators have gained some key insights into the biological inner-workings of regrowing a body, the evolution of aging and a unique method to dispose of aging cells, by studying the genomes of a hermit crab (Hydractinia symbiolongicarpus).
… about their functions, relationships and evolution,” said Charles Rotimi, Ph.D., director of the Intramural Research Program at …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… discovery for cancer and other diseases. Golub is also the Charles A. Dana Investigator in Human Cancer Genetics at the … Tucson. Prior to joining NHGRI, he was the Emanuel N. Maisel Professor of Oncology and Professor of Radiation …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… population but also people all around the globe,” said Dr. Charles Rotimi, senior author of the paper. “The biology then becomes …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Dis , 15(3):196-205. 2009. [ PubMed ] Carrillo-Carrasco N., Sloan J., Valle D., Hamosh A. and Venditti C.P. … of Washington, Seattle, 1997-2010. [ PubMed ] Hauser N.S., Manoli, I., Graf J.C., Sloan J., and Venditti C.P. … by David Adams, M.D., Ph.D. and study clinical director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… Y. Hu, Y. Zou, M. Yang, L. Medne, M. Leach, L.K. Conlin, N. Spinner, T. H. Shaikh, M. Falk, A. M. Neumeyer, L. Bliss, … in FHL1.. Brain , 132:452-64. 2009. [ PubMed ] J. Schessl, N.M. Goemans, A.M.I Magold, Y. Zou, Y. Hu, J. Kirschner, R. … 2009. [ PubMed ] A. Ferreiro, C. Ceuterick - de Groote, N. J. Marks, Goemans, G., Schreiber, F., Hanefeld, J., J. …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… [ PubMed ] Adeyemo AA, Prewitt TE, Luke A, Omotade OO, Rotimi CN, Brieger WR, Cooper RS. The feasibility of … Luke A, Cooper R, Wu X, Tayo B, Zhu X, Rotimi C, Bouzekri N, Ward R. A genome-wide scan for body mass index among … Genomics, 13(2):72-9. 2009. [PubMed] Adeyemo A, Gerry N, Chen G, Herbert A, Doumatey A, Huang H, Zhou J, Lashley K, …
The Genomics Landscape
In the November 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the History of Genomics Program, which has long worked to make various materials related to the history of genomics accessible to the public.
… After an introduction by NHGRI Scientific Director Charles Rotimi, Ph.D., Dr. Happi highlighted genomics …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… Ancestry in Medicine - A Time for Reckoning with Racism. N Engl J Med. 2021;384(5):474-480. doi:10.1056/NEJMms2029562 … Social Determinants of Health Collections . PhenX. Charles N. Rotimi, Ph.D., and Lynn B. Jorde, Ph.D. Ancestry and Disease …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… about the study. … ManNAc is an abbreviation for N-acetyl-D-mannosamine. ManNAc is an uncharged sugar and an … Day Symposium 2015 Presenter: Nuria Carrillo, M.D., NIH. N-acetylmannosamine (ManNAc) or Sialic Acid as Therapy for … Ph.D., NHGRI, NIH. Scientific Publications 2021 Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, …