Multiple Genes for Autism

Kristina at Autism Vox scooped me on the latest study (drat my need to sleep!) to come out showing that autism is most likely due to more than one gene. Dr. Gerard Schellenberg says there may be four to six major genes and another 20 to 30 genes having a minor role. This isn’t a big surprise because we know that complex diseases like autism, depression, heart disease, and cancer are the result of both genetic and environmental factors.

What I’ve repeatedly said here about genetics research on controversial diseases, disorders, or characteristics is that it is not about the elimination of “undesirable” people from the population. Genetic testing isn’t always about prenatal diagnosis and abortion. Certainly, there are some who believe in eugenics but the majority of scientists are looking for genetic information that enhances diagnosis and treatment.

Dr. Geraldine Dawson:

Once we discover these susceptibility genes, we can immediately screen infants to identify those at risk early in life. Early identification can lead to early intervention, which could have a much more dramatic effect.

Also, when a gene is discovered, you discover the underlying biology of autism at the molecular level. Once you understand the biology you can develop a prevention strategy including medical approaches. Genetic research is a good strategy for eventually designing effective medical treatments for autism.

In this latest autism genetics study of 169 families having at least two siblings with autism, researchers have found a way to distinguish between two types of autism–male versus female and early versus late onset–that will hopefully aid in developing more effective targeted intervention because even within one disease, there will be heterogeneity in symptoms and response to treatment. They’ve also found evidence that a gene involved in autism is somewhere on chromosome 7 and possibly on chromosomes 3, 4 and 11. (See this previous post listing the chromosomes implicated in autism up to last year.)

As Kristina emphasizes, there is no “cure” for autism nor would she wish for there to be one. She loves her autistic son, Charlie, just like any other mother with any other child. All anyone can hope for are ways to help her and Charlie make the most out of life and that, I believe, can include a greater understanding of the genetics of autism.

EurekAlert, July 31, 2006