Search Results
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
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.
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 …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
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.
Staff
Dr. Sara Chandros Hull is a deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
Research Training
A mentored, pre-tenure track junior faculty position during which time the incumbent designs and implements an integrated, translational research program.