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Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … discovered how the genetic mutation alters chemical pathways to cause the disease. By identifying these changes, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… A, Gibson K, Mitchell G. eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases .  New … glycosphingolipids in GNE myopathy. Journal of Inherited Metabolic Disease , 37:297-308. 2014. [ PubMed ] 2013 Yardeni …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… The researchers found that type 2 diabetes disrupts metabolic processes consistently across populations. Additionally, the study highlighted a new metabolic signature that could help in determining a person’s …
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 …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
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.
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 …
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. …