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News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… technique, researchers correct accelerating aging disorder. … technique, researchers correct accelerating aging disorder. … technique, researchers correct accelerating aging disorder. …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… may increase a person’s risk of developing a condition, disorder or disease. … may increase a person’s risk of developing a condition, disorder or disease. In many cases, carrying a pathogenic … may increase a person’s risk of developing a condition, disorder or disease. …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… in metabolic disorders. His expertise lies in a disorder known as methylmalonic academia (MMA), in which the … those suffering from MMA, current therapies to treat the disorder are limited. Dr. Venditti said that for …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… her research investigating primate social behavior and autism genetics, as well as evaluating methods of public … engagement, genomic medicine, primate social behavior, autism genetics, primate social behavior …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry … who have Parkinson's disease, a neurodegenerative movement disorder. Individuals who inherit two mutant copies of GBA1 …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… NT5E gene that causes a rare and debilitating blood vessel disorder. This condition affects only nine people in the …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails … Holoprosencephaly, Developmental Disorder, Birth Defect … Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails … and form the right and left halves of the brain. The disorder produces a single-lobed brain structure and severe …