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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
In an interview, Boyer reflects on her NHGRI career, the history of the NHGRI ELSI Research Program and the exciting future of research at the interface of ethics and genomics.
… research?  Boyer: One of the most pivotal moments was the recognition that genomics research involved human subjects. I …
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 …
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
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).
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
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 …
Outreach
Frequently asked questions about National DNA Day - a unique day when students, teachers, and the public can learn more about genetics and genomics.
… in local and national collaborations, and gain national recognition of their events. Register your event on the …