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News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH director and a corresponding …
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
Staff
Dr. Bell is a senior investigator at the National Human Genome Research Institute's Cancer Genetics and Comparative Genomics Branch.
… EGFR mutations in lung cancer activate anti-apoptotic pathways. Science, 305:1163-1167. 2004. [ PubMed ] *Kwak EL, … carcinoma: Etiologic importance of hormonal and metabolic influences. (Review). Adv Exp Med Biol , 943:3-46. … meeting report on identifying key genes and molecular pathways for targeted endometrial cancer trials. Oncotarget , …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… then do a post-doctoral fellowship in a lab that studies pathways or cell biology, currently or potentially related to … and based on what we find we proceed with genetic and metabolic testing. This often involves genome or exome … a physician thinking about rare diseases might be: (1) The Metabolic and Molecular Bases of Inherited Disease (a four …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… of Crp-Fnr transcription regulators: exploiting the metabolic spectrum by controlling alternative gene programs. … that links unresolved steps in familiar biosynthetic pathways with radical mechanisms: Discovery and functional …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and their regulatory elements, cell types, and biological pathways. The IGVF Consortium is being designed to advance … on Genomics and Global Health, as well as Chief of the Metabolic, Cardiovascular, and Inflammatory Disease Genomics … the genomic, social, and cultural determinants of metabolic diseases with implications for health disparities. …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… to decipher genome function and to dissect gene regulatory pathways in development and disease. His primary areas of … human patients, Dr. Pavan works to identify developmental pathways that regulate development, discover the alterations in these pathways that lead to disease and develop paradigms for …
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.
… kidney transplants, which help restore normal levels of metabolic proteins. “Vast fluctuations in metabolic substances in the bodies of patients make it … and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. “Instead of looking at levels, we …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… Related Resources Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions … [cell.com] Peter McGuire, M.D. Medical Genomics and Metabolic Genetics Branch 2016 News Feature: Training docs to …