遗传性疾病

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... 二月 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 ... 一月 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... 一月 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, ... 十二月 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 a... 十二月 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 pot... 十二月 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 majo... 十一月 19, 2025