Chicago at forefront of autism research with genetic sample gathering

The genetics of autism. The complexities run deep – that’s why researchers are digging deeper. A gigantic effort is underway across the country and right here in Chicago -- one that will yield big data and perhaps a better understanding of the disorder.

Holly Lechniak, SPARK study coordinator at Rush: “I’m gonna tickle your cheek, and I’m gonna gather all the saliva on both sides and put it right in here.”

That’s one swab out of the 50,000 researchers hope to collect in the largest autism study in the United States. The process is simple for patients and their parents. Maricela Robles and her son Enrique are part of the SPARK study – a mega-data collection taking place at 24 sites around the U.S. Rush University Medical Center is the study hub in Chicago. Researchers are gathering demographic, medical and behavioral information – and DNA samples for genetic analysis from families impacted by autism.

Maricela Robles, mother and SPARK study participant: “As a mom, I have to be his advocate. I want to be able to do everything that I can for him. I just want to learn more.”

It’s a passion parents and researchers share. Dr Latha Soorya and her team at Rush hope to enroll at least 200 trios – made up of a biological mom, dad and child – annually. But all individuals with an autism diagnosis are invited to participate.

Dr Latha Soorya, Rush University Medical Center researcher: “Studies like SPARK give us the promise of more information than a behavioral profile.”

Right now about 90 genes appear to play a role in autism. But researchers believe there may be hundreds more. In some cases, it’s a rare mutation that affects a single gene, or it could be a cluster of genes associated with development and how brain cells communicate. But it’s not all about genetics. It’s likely several environmental factors are in the mix – from maternal health to pollution to parental age.

Dr Soorya: “We don’t have a simple answer, but it’s not a simple condition.”

That’s where the SPARK study – and the thousands of diverse participants of all ages, backgrounds and races -- may make a significant impact.

Dr Soorya: “If we can develop treatments related both to the genes or the behavioral profile and really improve this journey families take, where they just do a lot of trial and error around treatments to see what works and what doesn’t and make that a little bit better.”

To RSVP for the data collection event at Giant Steps School – on Saturday, April 7 from 9:30 am to 1:30 pm, email spark@rush.edu or call (312) 563-2765. Giant Steps is located at 2500 Cabot Drive in Lisle, IL.

To learn more about the SPARK study or to reach the study coordinator at Rush University Medical Center, contact Holly Lechniak at (312) 563-2765 or go to www.SPARKforAutism.org/rush

The SPARK study is sponsored by the Simons Foundations Autism Research Initiative