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Genetic Disorders
About Huntington's Disease
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. …
Research at NHGRI
Genetics and Molecular Biology Branch
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
Clinical Research
GNE Myopathy
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
New report offers a primer for doctors' use of clinical genome and exome sequencing
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
Event
NHGRI at ASHG 2023 Annual Meeting
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. 
… Variants are Associated with Plasma and Skin Carotenoid Metabolism in Ethnically Diverse US Populations PB4093 Maha …
Staff
Wendy Introne, M.D.
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
News Release
NIH researchers pilot predictive medicine by studying healthy people's DNA
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
News Release
The human microbiome comes into focus
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
The Genomics Landscape
Bill Gahl Steps Down as NHGRI Clinical Director to Pursue Research
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 assists new investigators with Pathway to Independence
NHGRI hosted two Pathway to Independance awardees and supported 18 additional investigators at institutions nationwide.