Maladies génétiques

'Deafness reversed': Karolinska-led trial restores hearing in 10 people — but there are big caveats

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… Avr 05, 2026

Genetics

‘I’m at constant risk of cancers’ — lifelong tests

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… Fév 16, 2026

Genetics

Topical CRISPR Targets Skin Disease

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… Jan 27, 2026

Science

24-Year-Old Donates Brain to Dementia Research

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… Jan 13, 2026

Genetics

Cancer-linked Donor Affects 197 European Children

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… Déc 11, 2025

Science

Single Gene Linked to Mental Illness

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… Déc 05, 2025

Genetics

One‑Shot Gene Editor Targets Nonsense Mutations

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… Déc 05, 2025

Genetics

Curing All Genetic Diseases in a Decade?

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 … Nov 19, 2025

maladies génétiques

Articles about maladies génétiques

'Deafness reversed': Karolinska-led trial restores hearing in 10 people — but there are big caveats

‘I’m at constant risk of cancers’ — lifelong tests

Topical CRISPR Targets Skin Disease

24-Year-Old Donates Brain to Dementia Research

Cancer-linked Donor Affects 197 European Children

Single Gene Linked to Mental Illness

One‑Shot Gene Editor Targets Nonsense Mutations

Curing All Genetic Diseases in a Decade?