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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 …
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, …
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 …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… families." The first disorders added to the atlas are Down syndrome and 22q11.2 deletion syndrome. Down syndrome is the most common chromosomal condition, affecting …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… model may inform potential therapeutic options for Down syndrome. … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version … cognitive traits compared to a previously studied Down syndrome mouse model. The results of this study, published in …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and velocardiofacial syndrome, affects from 1 in 3,000 to 1 in 6,000 children. …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… Ph.D. … Mutations in the RIPK1 gene responsible for CRIA syndrome Over the last 20 years, three families have been … the cause of the illness, a new disease called CRIA syndrome. The results were published in the journal Nature . … cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome.    Although the researchers made the connection …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Doctors initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My … the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, researchers have … laborators-identify-the-genomic-cause-for-careyfinemanziter-syndrome/" …