Complete Autism Genome Scan Ready for Study - Your Insights Requested!
The Autism Consortium, a group of researchers, clinicians and families dedicated to radically accelerating research and enhancing clinical care for autism, said the scan was conducted using new, high-resolution technology on genetic data from more than 3,000 children with ASD and their families.An article in Science Daily provides a bit more information: "these data provide the most detailed look to date at the genetic variation patterns in families with autism." To me, this seems to suggest that the consortium has scanned genetic material from many different individuals and then put them together into a database which can be accessed for future research projects.The release of genetic and phenotypic autism data marks a significant achievement, said Thomas Insel, director of the National Institute for Mental Health.
"Progress in finding the causes and cures for autism spectrum disorders rests in large part on improving the rapid access and sharing of data and resources," said Insel. "That the consortium is making the data available to the scientific community even before its own researchers have fully analyzed the information, demonstrates their high degree of commitment to and leadership in advancing autism research."
Officials said the new data provide the most detailed look to date at the genetic variation patterns in families with autism.
Yet another article, this one in Medical News Today, provides additional clues into the significance of this event:
The world-wide consortium of scientists made the most of its large sample of 1,200 families, using "gene chip" technology to look for genetic similarities in autistic people. The AGP also scanned DNA from these families for copy number variations (CNV), or sub-microscopic genomic insertions and deletions that scientists believe might be involved with this and other common diseases.Of course, this is quite an achievement, and it certainly required a great deal of time, money and technology to scan so many sets of DNA. But I'm not quite sure why it is making international headline news. To the best of my knowledge, no one is suggesting that researchers have discovered an "autism genome," developed a genetic test for autism, or even fully described autism spectrum disorders. And while it's great to have more information available, I don't get the sense that this particular event represents much in the way of new hope for families and individuals living with autism.The innovative combination of these two approaches implicates a previously unidentified region of chromosome 11, and neurexin 1 - a member of a family of genes believed to be important in the contact and communication of neurons. The neurexin finding in particular highlights a special group of neurons called glutamate neurons and the genes affecting their development and function, suggesting they play a critical role in autism spectrum disorders.
For readers with a genetics background - can any of you explain in fuller detail what the significance is of the "genome scan" - or why it is so praiseworthy to share raw data among a group of researchers? Is it likely that a "genome scan" is likely to lead to more information more rapidly than other research methods? Is there some special meaning to the number of individuals scanned? How long might it take for anything to actually come of this achievement?
Comments
The autism Genome Consortium’s genetic data base includes only families that have two or more family members with an autism diagnosis and any findings do not apply to the vast majority of families that have no history of autism and a single member. Family clustering is found in many conditions not thought of as being ‘genetic, eg Leprosy.
It is certainly a step forward to allow all researchers to have access to important data.
So far, the Autism Genome Consortium has failed to identify any autism specific gene, despite the media hype. For example, the report of a ‘autism’ Neurolexin 1 gene has been way overblown. The finding was made in exactly 2 of 3,000 participants and both were girls from the same family. The same gene is also implicated in mental retardation and it would be important to know if the two girls were also diagnosed with MR. If so, what they are reporting ( in a tiny fraction of 1 % ) may not be an ‘autism’ gene.
A more important research paper published last month may explain why hunting for an ‘autism’ gene might be a friutless search for the Holy Grail. In the most detailed examination of the entire genome of a single healthy middle aged man, it was found the man ( and all of us) have thousands of copy number variations and mutations in thousands of genes.
The danger of the Autism Genome Consortium is misinterpreting a common nonspecific ‘genetic’ finding as being more meaningful than it really is.
Here is the paper:
http://www.theglobeandmail.com/servlet/story/RTGAM.20070903.wgenemap0903/BNStory/Science/home