Aug. 29, 2024 — For decades, scientists have dreamt of a future where genetic diseases, such as the blood clotting disorder hemophilia, could be a thing of the past. Gene therapy, the idea of ...

WHS is a rare genetic disorder caused by the deletion of a segment of chromosome 4. This missing genetic material can result in various health and developmental issues. Newsweek spoke to Carlos ...

One Faribault, Minnesota, woman says every day is simply a "gift" as she's the only known person in the world with her unnamed genetic disorder. "I was told that she probably wouldn't make it past ...

Inhibiting a key protein, GSK3-beta, partially restored connectivity in mice, highlighting a potential therapeutic target for neurodevelopmental disorders. Changes in brain connectivity before and ...

Florida girl with 2 genetic disorders masters karate training A young girl in Florida is proving that determination can beak through even the toughest barriers. The 12-year-old is battling two rare ...

Florida girl with 2 genetic disorders masters karate training A young girl in Florida is proving that determination can beak through even the toughest barriers. The 12-year-old is battling two ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, ...

A new genetic cause of neurodevelopmental disorder (NDD) has been uncovered by an international team of researchers. The discovery, published in Nature Genetics [10 Apr] and led by the University of ...

Campbell has been sharing Ellie's journey with the rare genetic skin disorder, raising awareness and funds for research to find a cure. "In loving memory of Ellie," Campbell wrote alongside a ...

Living with two rare genetic disorders — Osteogenesis Imperfecta and Larsen-like Syndrome — Moriarty faces daily challenges due to brittle bones and soft cartilage. However, her condition hasn ...

Daniel Greene, PhD, study's first author, Assistant Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai NDDs are disorders that affect the development of the ...