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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 …
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 …
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 …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They … the American Journal of Medical Genetics . … While Noonan Syndrome is relatively common -- affecting between 1 in 1,000 … percent). The researchers evaluated children with Noonan syndrome from 20 countries with an average age of 8 years; …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle … with CFZS have sometimes been misdiagnosed with Moebius syndrome, another very rare disorder characterized by facial … muscle cells) during myogenesis. In Carey-Fineman-Ziter syndrome, this cascade is disrupted because of a defect in …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Acquired Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … RNA (Ribonucleic Acid), Retrovirus Virus … AIDS … collection of symptoms known as acquired immunodeficiency syndrome. It is caused by infection with the human …