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News Release
NHGRI participated in a science communications contest called the Three-Minute Talk. NHGRI's Ryan Johnson came away with a first place win.
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… at leading institutions. Her groundbreaking work in cancer diagnostics, ADHD, and genome biology has been featured in … the sensitivity and specificity of blood-based cancer diagnostics, with broad implications for population screening …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… alike valuable information. It may also enable diagnostics and treatments to move one step closer to …
Staff
Dr. Sara Chandros Hull is a co-deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.