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Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… Investigator: Monte Westerfield, Ph.D. Boston University (Charles River Campus), Boston: $441,990 Principal …
National Advisory Council for Human Genome Research
The Director's Report Related documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in February 2019.
… 44 Dan Kastner Honored as Federal Employee of the Year 45 Charles Rotimi Named 2018 Quartz Africa Innovator 46 Bill Gahl Steps …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… editing and transplants are likely to be successful,” said Charles P. Venditti, M.D., Ph.D., senior author and senior …
News Release
NHGRI participated in a science communications contest called the Three-Minute Talk. NHGRI's Ryan Johnson came away with a first place win.
… Madeline Arnold works with NHGRI Senior Investigator Charles P. Venditti, M.D., Ph.D. in the Medical Genomics and …
Research Funding
NHGRI is initiating a new program-the Impact of Genomic Variation on Function (IGVF) Consortium to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes.
… heart and blood diseases with CRISPR base editing HG012010 Charles Gersbach Gregory Crawford Tim Reddy Duke University … cellular states HG011952 Andrew S. Allen William Majoros Charles D. Page Jr. Duke University Design, prediction, and …
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.
… Social Determinants of Health Collections . PhenX. Charles N. Rotimi, Ph.D., and Lynn B. Jorde, Ph.D. Ancestry and Disease …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… a symptom of a vitamin B12 metabolic disorder, explained Charles Venditti, M.D., Ph.D., head of the Organic Acid …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held its ninth in-person meeting on February 25, 2020, in Bethesda, Maryland.
… NHGRI Lisa Howley Association of American Medical Colleges Charles Huang* Fellow Undiagnosed Disease Network, NHGRI …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, …