Search Results
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… technique, researchers correct accelerating aging disorder. … Researchers have successfully used a DNA-editing … technique, researchers correct accelerating aging disorder. … DNA-editing, CRISPR, progeria, Hutchinson-Gilford … technique, researchers correct accelerating aging disorder. … News Release …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… diseases, in different human populations with particular attention to African Americans and Africans. Recent African …
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. … A pathogenic variant is a genomic … 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. … Talking Glossary …
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
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 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 …
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 … Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails … halves of the brain. … Holoprosencephaly, Developmental Disorder, Birth Defect … Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails …