Search Results
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. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
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 …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
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 …
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… Exploring the Microbiome and Its Connection to Metabolic Syndrome …
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… system development.5. These microbial genes encode myriad metabolic capabilities.6. The human microbiome … of specific microbes and/or specific microbial metabolic pathways are characteristic of disease patients vs …
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 …
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 …