NIMH awards CMU team $7 mil for autism genetics research

A team of researchers from various institutions, including some from Carnegie Mellon, working on the Autism Sequencing Consortium (ASC) project has been awarded funding from the National Institute of Mental Health (NIMH) to continue their work through 2022. The grant totals seven million dollars and will allow ASC to expand their work even further in its search for genetic markers of autism.
Autism is a spectrum of mental disorders ranging from mild forms that have little to no impact on people’s lives to severe forms that prevent patients from communicating properly, getting regular jobs, or going to regular schools.

ASC was established in 2010 in order to collect, share, and analyze genetic markers from autistic patients, with the ultimate goal of finding genetic signatures correlated with autism.

“In our latest project we analyze the entire genomes of 500 autism families. That’s a tremendous amount of data — 3 billion base pairs per genome,” says Kathryn Roeder, a professor of statistics and computational biology at Carnegie Mellon and a principal investigator of the ASC project, in a university press release.

The grant from NIMH will allow ASC to expand the sample a hundred times larger, to over 50,000 families. So far, around 29,000 individual genomes have been sequenced as part of the project, which is the largest autism sequencing study to date.

According to Bernie Devlin, another principal investigator on the project and a professor of psychiatry and genetics at the University of Pittsburgh’s School of Medicine, increasing the sample size is necessary to make important discoveries about autism in the long term. Another professor on the team of collaborators, Joseph D. Buxbaum, who is the G. Harold and Leila Y. Mathers Research Professor of Psychiatry, Neuroscience and Genetics and Genomic Sciences at Mount Sinai, summed up the importance of being able to increase the sample size: “Historically, the number of risk genes found has steadily increased with the number of patients studied, so it’s important that we continue to add patients to the data set.” He described the team as being “thrilled” to receive this grant, which he said would “accelerate” crucial research work.

The research work by the ASC has already produced tangible results on the path to ASC’s ultimate goal of determining genetic associations for autism. It has, among other things, developed statistical tools that identified 65 different genes associated with autism risk and predicted the existence of several hundred more such markers, provided information about the possible genetic makeup of autism, and found that although some rare genetic markers can dramatically heighten the risk for autism, most genetic risks for the disorder are carried in common gene variants.

The awarding of this grant means that these findings may well be the roadmap toward finding a more comprehensive set of genetic data for autism and paving the way toward novel methods for helping autistic patients.