The Autism Sequencing Consortium is meeting today at the National Institute of Mental Health. The conference is organized by Dr. Joseph Buxbaum of Mt Sinai School of Medicine and Dr. Matt State of Yale Medical School, both members of the Autism Science Foundation Scientific Advisory Board. Presentations will focus on the pathways from genes to therapeutics.
The consortium was formed two years ago in an effort to move autism genetics forward. Data show that 15% of autism is due to genetic structural variation and consortium members believe that at least an equal amount is due to yet undiscovered structural issues. The consortium is focused on fulfilling the short term IACC strategic plan objective to collect a large sample of 20,000 subjects for genome-wide association studies (Q3, S-1), and the long term strategic plan objective to identify genetic risk factors for autism in 50% of people with autism (Q3, L-2) .
NIMH Director Dr. Tom Insel opened the meeting saying it was only four years ago that we started talking about sequencing in autism and that genomics plays a critical role in understanding, diagnosing and treating autism. He described that there has been no way to identify subtypes based on clinical features. “Many attempts to do that in the past and have failed. The best way to subtype is likely to be by genetic architecture.”
Dr. Insel also described that our current evidence-based interventions are behavioral and as the number of children with autism continues to grow, these kids will probably not all be able to get 40 hours per week of therapy. “We need to find medications that are helpful for kids, especially those who are most severely affected. Right now, there are some clinical targets for associated symptoms for which we have medications, but we need medications for the core symptoms. Genetics work can give us these targets.”
Insel urged the group to look for alleles that are protective, rather than those that confer vulnerability as targets for drug development. “The twin who doesn’t develop autism or the younger sib who doesn’t have autism may be the most important in terms of treatment development. “ Insel added that genomics is a marathon. “This is a ten year effort to understand the risk architecture and get a real sense of the underlying genetic biology of autism”.