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Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
News Release
NHGRI researchers and colleagues are calling for health disparities research that focuses on the microbiome.
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
Event
The 2022 - 2024 Class of ISCC-PEG Scholars provided virtual presentations of the genomics education projects in which they were involved during their two years of participation in the program. Their ISCC-PEG Mentors provided introductions.
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.