Showing posts with label Autism Genetic Resource Exchange. Show all posts
Showing posts with label Autism Genetic Resource Exchange. Show all posts

Wednesday, November 02, 2011

Do Genetics Play ANY Role in Causing Autism?


"Autism is linked to different genes in different people, 
and multiple genes could be involved in each affected person."
Genetic Engineering & Biotechnology News, November 1, 2011

Do genetics play ANY role in causing autism?

The view that autism is caused purely by genetics held sway for many years especially with respect to funding autism research. The "it's gotta be genetic" mindset has seen research dollars dedicated overwhelmingly towards genetic based autism research.  Research into possible environmental causes or contributors to autism has been minuscule by comparison. What have those genetic autism research dollars produced? I am a humble, irrational, distraught parent of a son with severe autistic disorder but as I read commentaries by people who know much more than I do about these subjects what I see is doubt about the role of genetics in causing autism.

Genomic Studies Are Adding to Evidence of Autism’s Highly Complex Nature, an article by Patricia F. Dimon, Ph.D.,  published November 1, 2011 on the Genetic Engineering & Biotechnology web site makes the argument that current research, like that arising from the AGRE (autism genetic resource exchange), is providing some idea of where some common underlying genetic factors involved with autism might be found but in making that argument also makes statements suggesting a limited role for genetics in causing autism disorders:


"From a biological perspective, autism presents a “profoundly complicated” array of disorders with significant genetic components and genomic alterations thought to “organize around a central theme of neural network infirmities and neuroimmunodysregulations,” according to Daniel J. Guerra, writing in the March issue of Autism Research and Treatment.

Autism is linked to different genes in different people, and multiple genes could be involved in each affected person. These genetic factors, in turn, may interact with as yet unidentified environmental factors. It is now known that new mutations show up in children whose parents do not carry the mutation. Additionally, it turns out that in cases where underlying genetic mutations have been identified, the gene abnormalities don’t necessarily predict the disorder.

“Do we really know that every time you make that mutation or you delete one copy of that gene, you cause autism?” asked John Constantino, M.D., a pediatric psychiatrist at Washington University in St. Louis, in an interview with Los Angeles Times. “We have no idea.”" (Underlining added - HLD)

How can we continue to play the "it's gotta be genetic" card of autism research, and ignore possible environmental causes or contributing factors, when genetic autism research has failed to provide any tangible results?  

After so many years of siphoning off autism research dollars has genetic research helped us understand how autism is caused or developed?

Do genetics really play any role in causing autism?

Apparently .... we have no idea.

Tuesday, October 23, 2007

New Autism Genetic Data Released By John Hopkins and Autism Consortium

More detailed autism genetic data was released yesterday in a coordinated effort by the Autism Consortium and Johns Hopkins' McKusick-Nathans Institute of Genetic Medicine. As stated in the Autism Consortium and John Hopkins press releases the data was released to the world research community prior to publication in an effort to speed up research into causes of and cures for autism.

It is also interesting that parent driven organizations like Autism Speaks have been directly involved in the organization of this massive effort. The distrust of parent autism advocates and autism advocacy organizations demonstrated by Canada's CIHR does not seem to be shared by similar American agencies. The Autism Consortium DNA samples for the genome wide scans of DNA variation were provided by the Autism Genetic Resource Exchange (AGRE), a program of Autism Speaks.

The Autism Consortium consists of researchers from 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 Tufts-New England Medical Center. The Autism Consortium web site can be found at www.autismconsortium.org. More information about the Johns Hopkins' McKusick-Nathans Institute of Genetic Medicine can be found at http://www.hopkinsmedicine.org/geneticmedicine/

From the Autism Consortium press release

Autism Consortium releases data on genes involved in autism to researchers worldwide

BOSTON – OCTOBER 22, 2007 – The Autism Consortium, a group of researchers, clinicians and families dedicated to radically accelerating research and enhancing clinical care for autism, announced today that it has completed the first genome scan for Autism Spectrum Disorders (ASD) through its Autism Gene Discovery Project and has released the reference data set to a database that autism researchers around the world can use. The scan was conducted using new, high resolution technology developed by Affymetrix on genetic data from more than 3,000 children with ASD and their families.

“Today’s release of genetic and phenotypic data on autism marks a significant achievement for the autism research community,” said Thomas Insel, Ph.D., 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 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.”

Along with complementary data generated by Dr. Aravinda Chakravarti at Johns Hopkins and provided to the NIMH this week, these data provide the most detailed look to date at the genetic variation patterns in families with autism.

From the John Hopkins Press Release:

Hopkins Researchers Release Genome Data on Autism; Most Detailed Look at Genetic Contributions to Date

BALTIMORE, Oct. 22 (AScribe Newswire) -- Researchers at Johns Hopkins' McKusick-Nathans Institute of Genetic Medicine today are releasing newly generated genetic data to help speed autism research. The Hopkins data, coordinated with a similar data release from the Autism Consortium, aims to help uncover the underlying hereditary factors and speed the understanding of autism by encouraging scientific collaboration. These data provide the most detailed look to date at the genetic variation patterns in families with autism.

"Autism is a difficult enough genetic mystery for which we need all of the best minds and approaches to help unravel the role of genes in this neuropsychiatric illness," says Aravinda Chakravarti, Ph.D., director of the Center for Complex Disease Genomics at Hopkins.

Chakravarti and his team analyzed whole genomes from 1,250 autistic individuals, their siblings and parents; these samples were collected across the United States by many researchers under the aegis of the National Institute of Mental Health, part of the National Institutes of Health. Mark Daly, Ph.D., a senior associate member of the Broad Institute of Massachusetts Institute of Technology and Harvard, is part of the Autism Consortium which released data acquired collected similarly from 3,000 individuals who are either affected by autism spectrum disorders (ASD) or are family members of individuals with autism.

"We're releasing raw genotype data so that other qualified researchers can take a look at it even as we're still beginning our own analysis," says Daly.

"It is really something of a landmark to have pre-publication data from our laboratories available to autism researchers. We are doing so in the spirit of the human genome project where such data releases were critical to progress long before final results were available. We are carefully looking at our collaborative findings as we continue to search for definitive information about which genes are important in causing autism spectrum disorders," says Chakravarti, who has collaborated with Daly for many years. "We hope to identify the most likely candidates over the next few months."