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News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… on a group of genetic diseases resulting in disrupted metabolism. To better understand the mechanisms contributing …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… in the brain and how it affects the body's chemistry and metabolism using PET scanning and other imaging technologies. …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… Research Program (IRP), focusing on inborn errors of metabolism. Training future generations of clinical … manage, and counsel patients with inborn errors of metabolism. Like the Medical Genetics Residency Program, this …
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 mouse model of GNE  myopathy. Molecular Genetics and Metabolism , 107:748-755. 2012. [ PubMed ] Kakani S, Yardeni … Inclusion Body Myopathy. Molecular Genetics and Metabolism , 88:389-390. 2006. [ PubMed ] 2005 Sparks SE, … inclusion body myopathy. Molecular Genetics and Metabolism , 86: 244-249. 2005. [ PubMed ] 2004 Huizing M, …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
Event
The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021, that focuses on healthcare provider genomics education.