Another Big Data Collection Push to Slay Another Feared Enemy: Autism

In the last few weeks, we've written several stories about one of the more intriguing trends in medical research philanthropy: Funders putting up big bucks to help researchers collect vast troves of data and genetic material that can fuel breakthroughs. 

We wrote about a donor who gave $50 million to USC to bolster the work of a research team that's amassed the world's largest repository of "healthy and diseased brain images, along with medical and genetic data from diverse populations around the world." And, yesterday, we wrote about a big grant from the Helmsley Charitable Trust to scale up a large high-tech bank of tissue samples from patients with type 1 diabetes and make those samples available to any researchers who want it. 

Well, here's another effort we're tracking: a major push to collect genetic material from families with autistic children. 

Out of all the genetically linked maladies that plague the Western world, autism may be the one that's most rattling to people, especially parents. That's because it's not some devastating late-in-life disorder: It strikes at the start of life, when kids should have only promise before them. 

Effective new treatments for autism would have an enormous impact, not just on the autistic folks themselves, but on their families.

And like many genetically based diseases, the root to treating autism may be in gaining an in-depth understanding of patients’ genetic codes. Like, super-in-depth. Backed by the fortune of one of America's richest hedge fund titans, James Simons, the Simons Foundation has been putting time and resources into this project for years, ever since it inaugurated the Simons Simplex Collection in 2006.

The goal of that effort was to create a permanent repository of genetic material from 2,700 families, each of which has one child affected with an autism disorder and unaffected parents and siblings. Because the disorder is present in just one child and not the whole family, the markers and defects causing the disorder—at least in these families—are not inherited, meaning they arise from environmental factors or spontaneously.

Along similar lines, Simons is now socking $4.6 million into the creation of the Kaiser Permanente Autism Family Research Bank, a project to gather genetic material from 5,000 families who have a child with autism. The project will give researchers access to detailed genetic, medical and environmental information from ‘trios’—consisting of an individual with autism under 26 years old, plus both of his or her biological parents.

While the Simons Simplex Collection takes siblings into consideration, this project appears slightly more streamlined, with the focus on the parents and the child with autism. Rather than focusing on large numbers of an autistic person’s family members, this study seeks a larger number of families. The SSC’s goal was 2,700 families; the KPAFRB’s goal is 5,000 families.

“Our goal for this new research bank is to create a resource that helps guide the development of effective autism treatments,” said Dr. Lisa Croen, director of the Autism Research Program at the Kaiser Permanente Division of Research in Oakland, and principal investigator. “We don’t know what causes autism, or why it is increasingly prevalent. This study can point us toward the answers.”