PURE WIN: new study data

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New Genetic Findings Underline Complexity of Autism Spectrum Disorders
Wednesday June 9, 2010

Nature has just published a research study conducted by a huge collection of geneticists at institutions around the US and UK. The group analyzed the genome-wide characteristics of nearly 1,000 individuals with autism, and discovered an array of inherited and genetic differences which are more common among people with autism than among the general population.

According to NewsWise, the study highlights the incredibly complex nature of autism spectrum disorders. One researcher, in fact, suggested that each "autism" may be unique:

The study confirms earlier findings in smaller samples that some children carry private genetic mutations that are unique to them, contributing to their susceptibility to autism.

"We found many more disrupted genes in the autistic children than in the control group," said Dr. Stanley Nelson, UCLA professor of human genetics and psychiatry. "But here's where it gets tricky -- every child showed a different disturbance in a different gene.

A BBC article underscores this point:

The discovery of so many genes which all play a small part in the disease may help explain why the disorder manifests itself differently in individuals. Each person has a unique combination of faulty genes.

Intriguingly, several researchers are quoted as saying that this study may lead to development of new tests or treatments for autism. Yet it's hard to imagine how such tests could be developed based on a finding which says, in essence, that every person with autism has a unique set of genetic differences which manifest in unique ways. As always, the findings lead to as many questions as answers... and the promise of a quick-and-easy test, treatment or cure seems a bit like science fiction.

Previous studies have indicated people with autism may have more copy number variants overall than healthy people do. But the new study shows that people with autism had the same number of deletions as people in a healthy control group did. However, people with autism tend to have deletions that remove parts or all of genes, while healthy people carry deletions on stretches of DNA that don’t contain genes.

“You and I may have just as many deletions in our genomes, but since they don’t hit genes, we don’t have autism” or other diseases, says Anthony Wynshaw-Boris, a medical geneticist at the University of California, San Francisco, who was not part of the new study. “This is a natural part of being a human being. We get mutations. Most of the time it’s not a problem, but sometimes it hits a gene involved in autism.”

In the new study, an international consortium of researchers analyzed the genetic makeup of 996 people with autism and 1,287 people without autism to discover genetic factors that contribute to the disorder. The researchers found more than 5,000 copy number variants in people with autism, usually places where DNA was missing. Many of the people with autism had more than one spot in the genome where they were missing large chunks of DNA, each about 30,000 base pairs long.

Each of the specific variants was rare on its own, with even the most common found in less than 1 percent of people in the study. Often, people with autism inherited the rare variants from their parents, but just under 6 percent of them had new deletions not found in their parents. Such new mutations may account for some sporadic cases of autism, the researchers say.

“Most individuals with autism are genetically unique,” says Stephen Scherer, a genome scientist at the Hospital for Sick Kids in Toronto and one of the leaders of the study. He says that researchers are likely to find even more copy number variants involved in autism. Some people may have larger or smaller deletions than were examined in the study.

“The exciting thing about the findings of this study is that it highlights biological pathways that can be targets for therapy,” says Geraldine Dawson, chief science officer of Autism Speaks, a national organization that helped to fund the new study.

Welldone! you've found autism is even MORE diverse and complex and your excited there might be testing and therapy coming closer.............

I have always been suspicious that the Genome Project was just a strategy to blame the victims of vaccine poisoning. The reporting that the mutations don't originate with the parents is the most damning part. Where, or how do they originate. The fact is, if you search vaccines and spontaneous genetic mutations, you'll find where they likely originate.

I have always been suspicious that the Genome Project was just a strategy to blame the victims of vaccine poisoning. The reporting that the mutations don't originate with the parents is the most damning part. Where, or how do they originate. The fact is, if you search vaccines and spontaneous genetic mutations, you'll find where they likely originate.