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Study: Genetic basis identified for autism

November 5, 2014

Researchers have unveiled more than 60 genes associated with autism.Two new large studies have identified the genetic basis of autism, pinpointing dozens of different genes involved in the mental condition.1 The research demonstrates that rare mutations in these genes affect communication networks in the brain and compromise fundamental biological mechanisms that dictate how genes are activated overall. As new information on autism continues to unfold, those pursuing nursing careers might be able to better administer autism treatments and offer advice.

Several teams of researchers from more than 50 laboratories worldwide tracked down about 60 of the genes that have a 90 percent chance of contributing to autism risk. Through genomic sequencing, the studies show that many of these mutations are de novo, meaning parents do not have the gene mutation, but they present it spontaneously just before a child is conceived.

Basics of autism

Autism, also called autism spectrum disorder (ASD), refers to a group of developmental disabilities that are characterized by difficulties in social interaction, communication and repetitive behaviors.2 The Centers for Disease Control and Prevention estimate that about 1 in 68 children has been identified with ASD.2 In the last 40 years, autism diagnoses have skyrocketed, though it is unclear exactly how much of that increase is due to a broader definition of ASD, a better understanding of it or a true increase in the number of people with the disorder.

It has long been believed that autism is genetic, but a lack of substantial studies halted any definitive answer underlying the condition.3 However, in the last two years, scientists have been able to analyze the genetic mutations in hundreds of people with autism and locate genes that likely influence a child’s development of the disorder. In the two new studies, researchers have come that much closer to an explanation.

“Before these studies, only 11 autism genes had been identified with high confidence, and we have now more than quadrupled that number,” Dr. Stephan Sanders, assistant professor of psychiatry at UCSF, who co-authored both studies, said in a statement.3

Increase in genes tied to ASD

If the recent trends continue, Sanders estimates that gene discovery will unveil as many as 1,000 genes associated with autism risk.3 The genes implicated in the new studies can be split into three broad categories: they are involved in the formation and function of synapses; they regulate how the instructions in other genes are relayed to the protein-making machinery in cells; or they affect how DNA is wound up and packed into cells in a structure known as chromatin.

One of the new Nature studies analyzed data from the Simons Simplex Collection (SSC), a permanent repository of DNA samples from nearly 3,000 families. Each SSC family has one child who has autism, parents unaffected by the disorder and unaffeted siblings. The second study was based largely on information from the Autism Sequencing Consortium (ASC), an initiative supported by the National Institute of Mental Health that allows scientists from around the world to collaborate on large genomic studies that couldn’t be done by individual labs. The findings were nothing short of astounding.

Laying the framework for new treatments

“These genes carry really large effects,” Dr. Matthew State, chair and Oberndorf Family Distinguished Professor in Psychiatry at UCSF, said in the statement. “That we now have a bounty of dozens of genes, and a clear path forward to find perhaps hundreds more, provides an incredible foundation for understanding the biology of autism and finding new treatments.”

Students graduating from a registered nursing program may be part of the solution in helping further understand and treat autistic symptoms. The benefits might even extend into the pharmaceutical realm; currently there are dozens of medications used to address symptoms or other disorders. However, the new findings could pave the way for more complex treatments that target the gene responsible for the disorder, rather than the symptom.

“There has been a lot of concern that 1,000 genes means 1,000 different treatments, but I think the news is much brighter than that,” State told the source. “There is already strong evidence that these mutations converge on a much smaller number of key biological functions. We now need to focus on these points of convergence to begin to develop novel treatments.”

State said he doesn’t believe the findings will mean that in the future families will get their genomes sequenced to pinpoint hundreds of possible mutations.1,3 Instead, they have the potential to lay the foundation for discovering how autism develops, and what treatments or drugs could help combat it. As a result, professionals with pharmacy technician degrees may eventually administer new treatments that better isolate or target autism.

1Farley, P. (2014, October 29). Dozens of Genes Associated with Autism in New Research: Functions of Newly Identified Genes Converge on a Few Important Biological Processes. Retrieved October 29, 2014, from

2Facts About ASD. (2014, March 20). Retrieved October 29, 2014, from

Sifferlin, A. (2014, October 29). Major Autism Studies Identify Dozens of Contributing Genes. Retrieved October 29, 2014, from time/topstories (TIME: Top Stories)


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