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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 …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
File
… 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 …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
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 …
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 …