Search Results
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
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.
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
Staff
Dr. Issel Anne Lim is the Deputy Director of the Division of Extramural Operations (DEO) within NHGRI’s Extramural Research Program (ERP).
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
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.
… technology; and issues raised by use of genetics in reproduction and pediatric care. …