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Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… A person with myotonic dystrophy may have a characteristic facial appearance of wasting and weakness of the jaw and neck …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… mental disability, learning difficulties, a characteristic facial appearance and poor muscle tone (hypotonia) in …
Profile
After 50 years of federal service, Dr. Graham reflects on her contributions to the scientific community and the future of the genomics workforce.
… diversity, equity, inclusion and accessibility (DEIA). In recognition of her important work in this area, Dr. Graham …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… with physical attributes such as their trademark facial hair. The researchers published their findings online …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… don't understand social cues provided by tone of voice or facial expressions and they don't watch other people's faces …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
Events
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… programs in the world devoted to genetics and genomics. In recognition of his significant contributions to the research …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… the way the kidneys are formed or work, a characteristic facial appearance, learning problems, and speech and feeding …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… is being highly regarded in this way. But it really is the recognition of a partnership between a number of groups …
Staff
Dr. Bettie Graham was the division director for NHGRI's Division of Extramural Operations.
… genomics workforce. Dr. Graham received the PHS Special Recognition Award in 1993 and the National Institutes of …