Tuesday, January 27, 2015

Researchers Discover That Most Siblings with Autism Have Different Autism-Risk Genes

Autism and autism spectrum disorder (ASD) are both umbrella terms for a group of brain development disorders. People affected by autism usually have difficulties with social interactions, verbal and nonverbal communication and repetitive behaviors. Autism can be linked with intellectual disabilities, but there are some people who display exceptional abilities in areas such as visual skills, music, math, etc. The signs and symptoms of autism often present themselves in the first 2 to 3 years of life even though it is thought that autism affects early brain development. These disorders are generally more common in boys than girls and studies have shown that 1 in 68 children are diagnosed with one of the autism disorders.

Autism Speaks has funded an autism genome study that is the largest ever study of its type. The data collected during this study was part of approximately 1,000 autism genomes that were uploaded to the Autism Speaks MSSNG portal. The publication of these genomes into an open-science database marks the first time that whole genome sequences will be available for research. It is hoped that this will be the future of genomics and that more and more genome studies will be uploaded into open access databases, so that personalized treatments for many developmental and medical disorders can be discovered. The creators of the MSSNG project plan to make up to 10,000 autism genomes accessible for research. 



The study sequenced 340 whole genomes from 85 families that each had two children with autism. It found that 69% of siblings had little to no overlap in gene variations known to contribute to autism. Only 31% of siblings shared the autism associated gene changes. These results are astounding as it was previously believed that siblings with autism were inheriting the same autism predisposing genes from their parents. It now seems that this is not true. Scientists always knew that there were a great deal of differences in autism, but the findings of this research really pinpoint this.

The medical implications of this study are enormous. It has been realized that doctors should not just be looking for suspected autism risk genes, which is what is typically done in diagnostic genetic testing. A complete assessment of a person’s whole genome is needed in order to determine how to use knowledge of genetic factors to treat autism. Whole genome sequencing provides more information than traditional genetic testing and seems to be the future of genomics.

I think that this study is fascinating as it seems to be revolutionary and likely to contribute more pertinent information to families with autistic children. Autism can often pose challenges to families and if more effective, personalized treatments arise from this study then that would be great. While this study provides hope for those with autism, it also provides hope for the future treatment of other genetically linked disorders and diseases. I also find it to be intriguing that for so long scientists had the notion that siblings with autism would have the same autism associated gene changes and now they know that is not really true for the most part. It makes me think of how powerful research is and how a long held belief can seemingly be changed in an instant. 


Additional Links:
http://www.autismspeaks.org/what-autism

1 comment:

  1. Great article! I read this myself on the Autism Speaks web site. My brother has Down syndrome with ADHD and autistic tendencies, and dealing with him and several other classmates/peers of his, I absolutely agree that there must be different genes for different forms of autism. There should be different programs designed for these children (and adults!) to compliment their abilities and shortcomings. We have noticed over the years that many schools and day programs bulk them up into the same environment, which can be harmful to their growth process and educational abilities. Thanks for posting!!

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