The Genetic Component in Autism

Results from the largest genetic study ever done of people with autism and their families suggest that previously unsuspected areas of human genes play a role in the development of autism -- a finding that that may open the door for a blood test and targeted drug treatments for certain types of autism.

Preliminary results of the Autism Genome Project, published Sunday in the journal Nature Genetics, "delineate a new understanding of the genetic basis for this complex disorder," the authors wrote.

The study is the result of unprecedented collaboration among scientists at 50 institutions in 19 countries, who combined their collections of DNA from 1,200 families -- including some from New Jersey -- in which two children have autism.

The goal was to identify "autism susceptibility genes." The significance of the study's findings was enhanced by the large population studied -- nearly 8,000 people. Cutting-edge technology allowed the scientists to see the DNA at a much higher resolution than was possible before, so that previously unseen variations were detected.

This study found that 10-15% of families with an autistic child may have a genetic abnormality. Identifying the abnormality may help target new treatments and screening that will lead to earlier interventions and treatment.

Autism and its causes appear to be more complex than researchers imagined. Medical researchers are still trying to track down the causes of autism, and New Jersey is at the forefront of the work. Recent reports indicate that New Jersey appears to have a higher incidence of autism than 18 other states in a study. Part of that stems from the fact that New Jersey has better and more thorough reporting.

However, autism isn't simply a one size fits all disease. It is a spectrum ailment. A child can have different levels of the disease, from mild where the child can fully interact and engage in normal activities to a child who is fully closed off from the world around them.

It is hoped that scientists can help discern causes for the disease that may lead to not only improvements in treatment, but way to reduce the likelihood that a child may develop autism and autism spectrum disorder.