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.

We know that carrying one specific DNA variant can increase your risk of autism. What if you carry two?

Deletions or duplications of chromosomal segment 16p11.2 — previously reported as a key autism region — are seen in people with developmental delays and speech and behavioral problems, but not necessarily autism. That’s the finding from two large studies published last week of people carrying these rare genetic variations.

There are well-established paternal age effects in diseases less common than autism. A new paper in Nature Genetics explains how the effects might arise, and it involves a kind of tumor you’ve probably never heard of.

Interested more in ideas than in dominating a crowded field, Michael Wigler decided to apply his expertise in cancer genetics to studying poorly understood features of autism.

In the past few months, researchers have published dozens of reports linking single-nucleotide polymorphisms (SNPs) with susceptibility to a range of common diseases.

Rare, spontaneous mutations could account for at least ten percent of cases of schizophrenia, according a study published online last week.

At first glance, the waiting room at the Ministry of Health Hospital in Muscat, Oman, may look different than that of your average American hospital. Men dressed all in white and women in black burqas wait in separate rooms, even if they are members of the same family. But talking to these families soon reveals just how similar they are to their American counterparts, says Christopher Walsh, a neurologist who has studied neurodevelopmental disorders in the Middle East for nearly 10 years.

Following a series of papers in the past two years, what seems irrefutable is that copy number variations ― in which a particular stretch of DNA is either deleted or duplicated ― are important in autism.

Are older fathers more likely to have children with autism? A series of epidemiological studies is giving credence to the idea, suggesting that, with age, sperm may accumulate damage that increases risk in the next generation.