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Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood … newborns worldwide. The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme … bases — A, C, G and T. Progeria, which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… therapeutics for the rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies …
Staff
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by … accelerated aging. The classic form of progeria is called Hutchinson-Gilford progeria syndrome (HGPS), named for the doctors who …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… Drug Administration has approved the first treatment for progeria , a rare and fatal pediatric disease, characterized … drug class could provide benefit. Progeria, also known as Hutchinson-Gilford progeria syndrome, is a rare, multisystemic disease …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some … Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … information of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better … medical care. They assessed people with Williams-Beuren Syndrome from African, Asian and Latin American countries, …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …