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News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
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.
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.
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… He has made seminal discoveries about inborn errors of metabolism (including the establishment of the field of … the world's expert on cystinosis, disorders of sialic acid metabolism, Hermansky-Pudlak syndrome, and alkaptonuria. One …