Autism Speaks' genetic resource exchange, tissue program support findings published in Nature

Autism Speaks' Autism Genetic Resource Exchange (AGRE) and the Autism Tissue Program (ATP) continue to play an integral role in continuing genetic research and new findings in the complex autism inheritance and causation puzzle. In a study published in the October 7, edition of the journal Nature, an extensive research team of more than 75 research institutions identified semaphoring 5A, a gene implicated in the growth of neurons to form proper contacts and connections with other neurons. Previous studies have reported lower levels of this protein in blood samples from individuals with autism as compared to controls. In this study, the researchers were also able to extend that observation to the brain tissue of individuals with autism vs. control brains. "Taken as a whole, results from this study are consistent with reports from the past few years implicating gene/molecules involved with cell to cell contact and communication," explained Andy Shih, Ph.D., Autism Speaks vice president of scientific affairs. "If this finding holds and is further supported with additional research such as a functional study of the variant semaphorin 5A, this molecule could represent another biological target for pharmaceutical intervention in the future and possible treatment for some individuals with autism."

According to Dr. Shih, "This study is key – it reinforces the notion that deficit in proper neuronal interaction is involved with autism neuropathology. Further it is one of a few autism genetic studies to date that utilizes genome-wide association studies (GWAS), a promising new genetic analysis technique that has yielded exciting results in other complex diseases such as diabetes and bipolar disorder." Finally, Dr. Shih finds the results of this latest study to be compelling as it involved large sample sets and multiple independent replication.

"This study illustrates how complex and challenging it is to do this type of work (GWAS), and the importance of collaboration and independent replication of findings," reacted Geraldine Dawson, Ph.D. chief science officer Autism Speaks. "More than ever, the autism science community turns to and relies on the invaluable partnership with families through AGRE, the Autism Genome Project (AGP), and ATP which are changing the landscape of autism research by leaps and bounds," she concluded.

Source: Autism Speaks