By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.
Spectrum: Autism Research News
Science & Society
From funding decisions to scientific fraud, a wide range of societal factors shape autism research.
Deletions in the second half of the autism-linked gene neurexin-1 are associated with seizures and large head size, according to a study published 23 May in the European Journal of Human Genetics.
Rare variants make up the vast majority of human genetic variation, according to two independent papers published in May in Science. That means that genetic studies of complex diseases such as autism are likely to require tens of thousands of participants.
A freezer malfunction that damaged a third of the largest collection of autism brain tissue points to the dire need for more donations, a better system for eliciting them, and a coordinated effort for storing and distributing tissue.
Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.