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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 …
Staff
Dr. Francis Collins was 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 …
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 …
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. …