Protecting the privacy of autistic people and their families faces new challenges in the era of big data.

Repeating bits of the genome may be responsible for nearly 3 percent of the genetic architecture of autism.

A new blood test can identify within seven hours whether a person carries the genetic mutation underlying fragile X syndrome.

Deletions and duplications of long stretches of DNA may increase the likelihood of autism in people who have a mutation in a gene called PTEN.

People with autism are at increased odds of having other psychiatric conditions, such as anxiety and depression, but the links can be counterintuitive.

No diet is likely to treat autistic people on a large scale, but diets based on a genetic profile may bring big benefits to a few.

A new database cross-checks study participants to avoid double-counting variants linked to autism genes.

Researchers have identified a distinctive pattern of gene expression in the white blood cells of young autistic boys.

Advances in research and help from families have brought scientists to the brink of an effective therapy for Angelman syndrome.

Studying Smith-Magenis and Potocki-Lupski syndromes — two single-gene conditions in which people have trouble reading social cues — may boost our understanding of autism.