A common variation within a region on chromosome 16 puts a large proportion of the general population at risk for intellectual disability, according to a study published in August in Nature Genetics.

For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?

Racial minorities are under-represented in genetic studies, in part because research guidelines do not account for differences in family structure, according to a report based on statistics from several autism gene banks. In response to the report, research teams at Stanford University and the University of California, Los Angeles, are revamping their recruitment practices.

Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.

Several studies in the past year in people, mice and honeybees have tied autism to a protein that helps neurons communicate. Problems with the protein, neurexin 1, are associated with a wide range of autistic behaviors, such as impaired social interactions, anxiety and problems with learning and memory.

On 7 April, a group of investigators conducting autism genome sequencing projects met at the New York Academy of Medicine, aiming to establish the ground rules for a potential Autism Sequencing Consortium.

To examine protein interactions inside brain cells, scientists typically zero in on one gene at a time. A new method described in today’s Nature simultaneously measures expression of the whole genome.

Writing in Science, leading scientists call for a 10-year, $2 billion international scheme that would combine the latest in genetics and animal research to combat psychiatric diseases.

This summer will mark ten years since scientists sequenced the human genome. What have we gained from knowing those 3 billion base pairs?

With an openness to collaboration and a healthy dose of daring, Evan Eichler has turned his offbeat interest in repeat DNA sequences into a new understanding of how genomes evolve, expediting the search for genes disrupted in autism.