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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. … A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is …
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 … DNA-editing method shows promise to treat mouse model of progeria …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by accelerated aging. … accelerated aging. The classic form of progeria is called Hutchinson-Gilford progeria syndrome (HGPS), named for the doctors who … Progeria is a rare disease characterized by accelerated aging. …
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 … NIH research leads to first FDA-approved treatment for progeria …
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 … and speech and feeding problems. The name velocardiofacial syndrome comes from the Latin words 'velum' meaning palate, …
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, Retraction Syndrome, …
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 … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or … A syndrome is a collection of recognizable traits or …
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, …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … People who have Down syndrome have learning difficulties, mental disability, a … muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an increased risk for having heart … disease, and hearing loss. Some people who have Down syndrome have low activity of the thyroid gland …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 … from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 …