And because women carry two X chromosomes and men carry only one ... including Stargardt disease, Usher syndrome and retinitis pigmentosa (RP). Currently, there is no way to reverse these risks ...

Usher syndrome (USH) is an autosomal recessive disease characterised ... p.Glu767SerfsX21 in 846 control chromosomes assayed in this study. If a novel variant fulfilled the above criteria, but ...

This is a metabolic disorder caused by glucocerebrosidase enzyme deficiency, resulting in fatty buildup in the liver, spleen and bone marrow. Bone pain, fractures, osteoporosis, anaemia-induced ...

The clinic, located on the ground floor of the N.C. Children’s Hospital on Manning Drive in Chapel Hill, officially opens ...

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study. Down syndrome is caused by the presence of a third copy ...

Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...

"You either have XX or XY chromosomes," Rep. Nancy Mace, R-S.C., wrote Feb. 20 on X. "Those are the options." Most commonly, a person is born with two X chromosomes (female) or an X and a Y (male).

Usher appears with Jennifer Hudson on "The Jennifer Hudson Show" airing February 4, 2025 in Burbank, California. (Photo by Chris Haston/WBTV via Getty Images) Usher will take the stage in a unique ...

A senior officer in Canada’s Parliament received a rare honour this week: in an audience with King Charles, Usher of the Black Rod J. Greg Peters received a new ceremonial sword. The usher is a ...

(Nature Communications) The open-label DAFFODIL study of trofinetide (Daybue) in young girls with Rett syndrome showed symptoms improved with no new safety signals. (Med) Worldwide cases of ...