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Autism Understanding Furthered
By International Genetic Study


By Rachel Evans

Autism understanding begins when a person realizes that autism is a disorder that affects people differently. Although autism affects the normal functioning of a person’s perception, attention and thoughts, autism is not characterized by one type of perception, attention and thought.

Instead, it covers a broad spectrum of disorders that may be mild or severe. Due to the fact that autism is such a complex disorder, medical research is still in the process of understanding how it develops and why it affects certain individuals.

One particular medical project with the aim to find better autism understanding by identifying the gene that causes autism, is the 5 year Autism Genome Project (AGP). So far, phase I of the AGP has identified a gene and parts of a chromosome to be linked with the occurrence of autism. The findings of this particular autism study was published online in the Nature Genetics February 18, 2007 issue.

The Autism Genome Project is a global research consortium that is funded by Autism Speaks and the National Institute of Health. Autism Speaks is a non-profit organization that is dedicated to raising the awareness of autism and raising funds to help research it.

The AGP involves more than 120 scientists from 50 institutions in 19 countries around the world. The researchers who have collaborated on the project combined their autism expertise, and shared all of the data and samples they had to help identify autism-related genes.

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As was mentioned, phase I of this project began 5 years ago in 2002, and it allowed the team of medical experts to gain autism understanding by identifying a single specific gene known as neurexil 1, and part of chromosome 11 which could likely be the cause of autism in children. These findings are based on the largest autism genome scan that has ever been done.

Scientists have known for many years that autism is a genetic disorder, but only until the AGP have they been able to use special “gene chip” technology to search for genetic similarities in autistics.


Genetic similarities were found in practically all of the autistic individuals within each of the twelve hundred families that that were made part of the project. The scientists also checked the DNA of each family to look for copy number variations that are believed might be connected to autism and similar disorders.

What the researches discovered in their study was that one particular gene known as neurexin 1 plays a significant role with glutamate; a neurotransmitter that has been formerly linked to autism.


Researchers also uncovered an area of chromosome 11 that is suspected to contain a gene that may be involved in the occurrence of autism. However, this particular gene in chromosome 11 has yet to be identified which is required for further autism understanding.

Based on previous research, and the research that has been uncovered by the study so far, scientists speculate that there may be as many as 6 main genes and 30 additional genes linked to autism.


However, these numbers are only theories, as scientists point out that the actual number of genes could exceed their theory. Nevertheless, despite the number of genes that may be involved, researchers admit that it is still far too early to dictate how these genes may be responsible for autism.

Currently, phase II of the Autism Genome Project has been announced. The promising discoveries found in phase I makes scientists hopeful that discovering the genes that cause autism will provide new steps toward autism understanding. With greater understanding, more effective methods of diagnosis, preventing and treating the disorder can be taken.


About the author - Rachel Evans. For information and to signup for a Free Newsletter about Autism please visit
The Essential Guide to Autism