Scientists funded by the Simons Foundation Research Initiative on Thursday announced the launch of an online project that aims to gather DNA and other information from 50,000 people with autism and their family members.
The long-term study involves researchers from more than 21 medical institutions, including Boston Children’s Hospital, the University of North Carolina-Chapel Hill, the Kennedy Krieger Institute and Weill Cornell Medicine.
Autism diagnoses have risen in the United States at a high pace, and a survey this year estimated that one out of 45 children ages 3 to 17 have the condition. The issue has strained state and federal resources for special needs and created whole industries of companies catering to interventions and therapies.
Autism is considered to be a spectrum disorder, which means that some people are more severely affected than others. Some of those with the condition are nonverbal and need support throughout their lives. Others are considered to be on the high-functioning end and their symptoms are significantly milder. Actress Daryl Hannah, best known for the movies “Roxanne” and “Splash,” is among the celebrities who have publicly spoken about their struggles with the condition.
Among the main controversies surrounding autism are its definition and methods of diagnosis, which have changed significantly over the years. There is no blood test or other biomarker for the condition, so doctors rely on parent and teacher surveys, observations and a test that simulates how the person might respond in a typical conversation. In recent years, the National Institutes of Health has led a brain-imaging study that looks at different aspects of how the brain develops and activates in children with autism.
Joseph Piven, who is co-leading the team at UNC-Chapel Hill, said the initiative would help accelerate an era of personalized medicine for people with the condition. He said the data from the study could be used to “guide targeted treatment research based on a patient’s genetic analysis.”
That approach is likely to be a long way away. Scientists still haven’t been able to figure out how genes work to create specific diseases that are measurable in the body, much less how genes and the environment interact with each other to create more-difficult-to-define personality traits. Autism is primarily treated these days with a battery of therapies with speech, physical and behavioral and socialization goals rather than with medication. With the complexity and diversity of autism, individualized treatments are necessary, but it’s unclear what role genes will play in determining which ones will work.
For information about the study or to sign up, go to www.sparkforautism.org.
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