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.

British Researchers Unveil Brain Imaging Center Devoted to Autism Studies

Researchers at the Oxford University Department of Psychiatry announced the opening of a special imaging center to study the brains of both children and adults with autism spectrum disorders. The university is calling the Oxford Neurodevelopmental Magneto-
encephalography Centre the world's first brain imaging facility devoted to studying autism. It is located at the Warneford Hospital in Headington, England, about 56 miles west of London.

The magnetoencephalography technology, using a machine like the one pictured above, allows researchers to create a "window on the brain" of its subjects, allowing scientists to watch brain activity as it changes from moment to moment, of an individual subject while they sit upright and perform tasks.

The Oxford Mail newspaper reported the center's opening on October 12, complete with a ceremonial visit by Princess Anne, daughter of Queen Elizabeth II.

The brain scanning equipment costs 2.3 million British pounds, about $4.7 million at today's exchange rate. A Swedish medical equipment maker called Elekta makes this machine. (Note to e-mail subscribers: you can also see a photo of the machine here.)

This project fits into a broader effort to understand brain anatomy and genetic components of autism spectrum disorders, one of several themes of autism research ongoing around the world. Other notable research efforts are underway to examine potential environmental factors in the incidence of autism. You can read about past coverage of these and other notable research studies by going to Autism Bulletin's archives for articles labeled "research," or by clicking here.

Oxford unveiled plans for the brain imaging center in January. The university's press release emphasizes the need to make subjects comfortable while researchers monitor their brain activities. One look at the machine's large apparatus shows this could be a challenge with young children; notably, the Oxford facility is supposed to look less imposing. More from the press release:

The scanner will help Oxford University's autism research group, led by Professor Anthony Bailey, to understand the brain basis of autism. It will also be a resource for researchers from all over the UK.

MEG (Magnetoencephalographic) scanners provide a 'window on the brain': they allow doctors and researchers to view brain activity whilst a particular task is performed, showing both where and when different parts of the brain are active. The scanner measures the tiny magnetic fields generated by brain activity.

'MEG is ideal for studying autism,' says Professor Bailey. 'The scanner is silent and safe, children and adults can sit upright, and researchers are able to sit next to them, making it a stress-free experience. Imaging the brain allows us to compare the brain activity of someone with autism to that of someone without autism.'

MEG scanners allow the patient or subject to sit upright and unenclosed. MEG scanning also provides millisecond time resolution: in other words, it shows how brain activity is changing from one moment to the next.

Until now, Professor Bailey's team has traveled to Finland to measure brain activity, either taking with them adults with autism from the UK, or studying affected Finnish children. 'The new centre in Oxford will transform our research into the brain basis of autism,' he says. 'It will also be a resource for other autism researchers.'

Professor Bailey and his team's MEG research in Finland has already shown that human faces are processed in a quite different way in children and adults with autism. 'The next step is to understand why there is this difference in processing and how it changes with development,' he says. 'Ultimately we aim to develop more effective treatments.'

The £2.3m MEG Centre has been designed as a relaxing environment for children with autism, with plenty of exposed wood, natural light and open space. It contains a 'practice' scanner which allows children to get used to the process without using up valuable time on the active scanner.

Studies using the MEG scanner will form one part of the work carried out by the autism research group. The team leads an international study to identify autism susceptibility genes; uses several imaging techniques to understand the brain basis of autism; and is investigating how computer-generated worlds can be used to develop social skills. The team is currently looking for children and adults with autism to take part in their studies. Individuals and families interested in learning more about, or helping with, research by the group can contact them on autism.research@psych.ox.ac.uk.