Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.
In November, the Simons Foundation Autism Research Initiative (SFARI) launched a request for applications, calling for letters of intent from individuals who will conduct bold, imaginative and rigorous research relevant to our mission. Applicants received notice in late February indicating whether they should submit a full application. Here, John Spiro, SFARI’s senior associate director for research, attempts to demystify the grant-making process — and give readers a behind-the-scenes look at how SFARI’s science team makes decisions.
A study on a SHANK3 mutation highlights the danger in using research tools to inform decision-making in the doctor’s office. This sort of concern is one of the reasons for SFARI Gene’s new efforts to develop criteria for evaluating the strength of autism gene candidates, and presenting this information to the broader community.
Several studies have shown that a micro-duplication within 15q11-13 — a region on chromosome 15 — on the maternal chromosome is associated with autism. The duplicated region contains many genes, but UBE3A, which encodes a ubiquitin ligase, deserves special attention because duplications apparently restricted to the UBE3A gene have been found in people with autism.
Fever has benefits beyond its role in fighting infection. According to a prospective study published in 2007 and to many anecdotal reports, fever can improve cognitive function and behavior in individuals with autism.
Autism research has attracted a remarkable diversity of scholars. Many of them have developed an understanding of concepts in fields that are not their own, but it is difficult to move beyond that level and think creatively in new domains. With this in mind, I plan to introduce topics that bridge fields, minimize jargon and place complex concepts in historical context.