Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… and senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch. "We can use this information today … Children with MMA suffer from frequent life-threatening metabolic crises when they encounter a minor viral illness or … team created a new mouse model and used it to discover key pathways that were affected during a fasting challenge to …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… five senses. Blindness can be a symptom of a vitamin B12 metabolic disorder, explained Charles Venditti, M.D., Ph.D., … NHGRI's Zebrafish Core is a resource to identify genes or pathways that are similar across species, from zebrafish to …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… genes are turned on and off. mir4485 controls cellular pathways that help cells survive. For children with …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… the best,   … Rare and common genetic determinants of metabolic individuality and their effects on human health … innate and foreign substances. In some cases, these metabolic changes can impact physical traits such as risk of …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.
… obesity, said Charles N. Rotimi, Ph.D., chief of NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics … Americans, we are providing new insights into biological pathways for obesity that have not been previously explored," … College of Medicine, University of Lagos, Endocrine and Metabolic Unit, Lagos, Nigeria -- Olufemi Fasanmade, Thomas …
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 …
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 …
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 …
The Genomics Landscape
In the June 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the legacy of the Human Microbiome Project as it reaches completion.
… researchers found that certain microbes (and their encoded metabolic pathways) are gained or lost with these disease conditions. …