Researchers Identify Genetic Flaw in One Percent of Autism Cases Studied

Researchers at the Boston-based Autism Consortium today said they had discovered evidence that a genetic flaw appeared to play an important role in about one percent of 1,500 autism cases studied. While the findings, called a chromosomal abnormality on chromosome 16, represent a very small portion of the autism population, scientists hailed them as a promising clue for more research into the possible causes of autism spectrum disorders.

The New England Journal of Medicine published the study (titled "Association between Microdeletion and Microduplication at 16p11.2 and Autism") on its website, which you can find here. The Autism Consortium published a press release about the research here. And The New York Times posted a useful summary about the research in an article "Study Says DNA Flaw May Raise Autism Risk."

The Times story includes this quote: “This is a fantastic study, in that it points us toward a path, gives us an idea of where to look,” said Thomas Lehner, chief of the genomics research branch at the National Institute of Mental Health, who was not involved in the research. “However, it also shows we have a long way to go to understand what is a very complex disorder.”

The researchers said the analysis they performed indicated that, the chromosomal flaw, "was de novo, a newly occurring change in the DNA that the affected individual did not directly inherit from either parent" in the majority of cases studied. This chromosomal flaw leads to a susceptibility for autism spectrum disorders.

About the Researchers and What Happens Next

It takes a lot of high-powered researchers and costly information technology to administer DNA tests and process genomic research; that much is clear from reading materials provided by of the Autism Consortium. One goal the researchers have is to reduce the costs of these tests so they can collect more samples.

The Consortium statement adds:

Future plans of the Autism Consortium include further analyses to identify additional genes involved in ASDs, research to understand traits that may be associated with specific genetic differences and the mechanisms at work. The ultimate goal is to better understand the efficacy of current treatments available and to develop new treatments.

Eric Lander, Director of the Broad Institute of MIT and Harvard said “Our collaboration with the Autism Consortium is changing the face of research in autism spectrum disorders. We are beginning to develop a full understanding of the autism spectrum disorder genome, which in turn leads us to understanding the different types of autism, the etiology and effect of each type, and ultimately, will lead to the discovery of treatments that have the greatest promise.”

In addition to medical researchers and geneticists at a group of 14 Boston area hospitals, the research involves the Autism Genome Research Exchange (AGRE), a program of Autism Speaks, which officials said seeks to share genetic data with the scientific community in what sounds a bit like an open source software project. The project allowed researchers to scan genetic data from more than 3,000 people, including 1,441 diagnosed with an autism spectrum disorder.

In addition to the genetic database information, the AGRE database included information on traits and behaviors of the individuals. The Autism Consortium team took advantage of a new gene scanning technology from Affymetrix, a Silicon Valley company that provides analytics tools for genetic researchers; and deCODE Genetics Inc. in Iceland, a biopharmaceutical company that studies genetics so it can produce new drugs.

The Autism Consortium itself includes 14 leading universities and medical centers in the Boston area. Here's more from the press release description:

The Consortium includes families, researchers and clinicians who have joined together to radically accelerate research and enhance clinical care for autism spectrum disorders. A private nonprofit, funded entirely by donors, the Consortium is ground-breaking in a number of ways. We focus on families, linking them to the resources they need and supporting them in participating in research studies to understand and treat autism spectrum disorders.

The Consortium brings together the best minds across Boston, from Beth Israel Deaconess Medical Center, Boston Medical Center, Boston University, Boston University School of Medicine, Broad Institute of MIT and Harvard, Cambridge Health Alliance, Children’s Hospital Boston, Harvard University, Harvard Medical School, Massachusetts General Hospital, Massachusetts Institute of Technology, McLean Hospital and the Floating Hospital at Tufts-New England Medical Center.