Spectrum: Autism Research News

Late in June, an announcement appeared on the website of GeneDx, a genetic testing company based in Gaithersburg, Maryland. It was highlighted in red with a single word: “new”.

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.

Two research groups have achieved an elusive goal: producing mouse models that show distinct social and behavioral abnormalities reminiscent of autism.

Imagine being confined for at least half an hour to a dark, claustrophobic tunnel, in a machine so obnoxiously loud that it sounds like you’re in an oil drum with a jackhammer pounding on the outside. Thatʼs whatʼs involved in magnetic resonance imaging (MRI): an experience enough to make even the bravest among us flinch.

In a paper published today in The New England Journal of Medicine, researchers have identified a segment containing 25 genes on chromosome 16 that was deleted or duplicated in roughly one percent of children with autism.

Stylianos Antonarakis still vividly remembers the thorny statistical problem that had vexed him for several months in 1982. Antonarakis, then a postdoctoral fellow at Johns Hopkins University, had turned to his colleagues at Hopkins, but none of them had been able to solve the problem.