Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

This article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]

Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

Autism and schizophrenia co-occur significantly more often than would be expected by chance, according to an analysis of nearly 2 million people.

Mice with different genetic backgrounds have distinct behavioral profiles — and that may muddle findings from mouse research.

Austria must train more autism specialists, expand its research funding and build more centers for autism diagnosis and treatment.

The best way to deliver surprises from genetic findings is to provide adequate information and counseling alongside the results.

It is not a matter of whether there will be clinical trials of genetic therapy for Angelman syndrome, but when.

A remote Colombian town is home to the world’s largest cluster of people with fragile X syndrome. Scientists are learning from them — and trying to help.

A pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world.