遺伝性疾患

A single injection of AAV gene therapy delivered a working OTOF gene and improved hearing in ten patients within weeks, researchers report. The results are striking for one rare f… 4月 05, 2026

A young Australian woman with a rare Cowden‑syndrome variant describes needing 'virtually every test, every six months, for life'. This article explains what a hereditary cancer p… 2月 16, 2026

UBC researchers report a topical CRISPR treatment that repairs disease-causing mutations in human skin models using laser-assisted lipid nanoparticles, a potential platform for in… 1月 27, 2026

A 24-year-old man from Norfolk who developed aggressive frontotemporal dementia donated his brain to Addenbrooke’s Hospital to help researchers study early-onset disease and its g… 1月 13, 2026

An investigation this week found sperm from an anonymous donor carrying a TP53 mutation linked to Li‑Fraumeni syndrome was used to conceive at least 197 children across Europe, ra… 12月 11, 2025

Researchers report that loss-of-function variants in the GRIN2A gene can directly produce early-onset psychiatric illness, challenging the idea that major mental disorders are alw… 12月 05, 2025

A new gene‑editing platform called PERT uses engineered suppressor tRNA to bypass premature stop signals in DNA, rescuing protein production in cells and mice and offering a poten… 12月 05, 2025

A Mammoth Biosciences executive told the Dubai Future Forum that gene editing could treat every genetic disease within ten years. Here’s what the science, recent trials and major … 11月 19, 2025