Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
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 …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
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 …
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 …
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 …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
​
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of phenotypic diversity encountered in a single gene disorder, and applies gained insights to better understand … and basic sciences. Gaucher disease (GD), the prototype disorder studied, is the recessively inherited deficiency of … enzyme glucocerebrosidase (GCase). This well-characterized disorder has broad clinical diversity, ranging from death in …