Search Results
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, …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
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
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Variants are Associated with Plasma and Skin Carotenoid Metabolism in Ethnically Diverse US Populations PB4093 Maha …
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 …
News Release
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.
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.
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
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.