A Cause For The Cure

Autism Spectrum Disorder (ASD) is the fastest growing neurodevelopmental disorder, and yet there is no known cause or cure. We know that ASD is characterized by difficulty communicating and forming relationships as well as stereotyped restricted and repetitive behavior. However, one of the most interesting characteristics of ASD is how widely it is expressed. The severity of autism ranges from person to person, regarding how people express their social skills, their repetitive behavior, and even their aggression. Although a lot is known about how autism is expressed in the world around us, the biological underpinnings of ASD are vastly unknown. With 1 in every 68 children born in the United States receiving a diagnosis of ASD, the lack of knowledge on this subject is becoming an even more pressing issue. Evidence shows that ASD is highly heritable; however, no single gene has proven to affect more than 1% of ASD. Therefore, this knowledge alone cannot give insight into this mysterious disorder.

Currently, research is looking at the biological basis of ASD, in order to identify specific intervention targets. Without a known cause of autism, it is difficult to curate treatments and medications that are most beneficial to people with ASD. Although there are many different therapies that help with social skills and medications that maintain aggression, neither of these hit at the core symptoms for autism — such as repetitive behavior and forming relationships. The reason treatments cannot target these specific behavioral patterns is because it is not known what makes them happen. Without a cause there can be no cure.

I am currently working in a lab at the Keck School of Medicine under the direction of Dr. Daniel Campbell. In past years, we have identified 10 different long non-coding RNAs that show a different expression in people who have ASD compared to typically developing, age matched controls. Advances in technology have allowed us to explore the importance and effects of long non-coding RNA, showing us that they may play an integral role in regulating the neurodevelopmental process. Therefore, alterations in these non-coding long RNA could cause deficits in important developmental processes and thus have an impact on the expression of ASD.

Now that we have identified these long non-coding RNAs with altered expression, we are currently looking to identify environmental factors that contribute to ASD risk and this alteration. Past research has shown that traffic-related air pollution can increase the risk of ASD. So to test this, we exposed genes to diesel particulate matter to look at the expression of ASD in the implicated long non-coding RNAs that I previously mentioned. It is expected that after exposure to these diesel particulate matter, the genes will show altered expression; thus, indicating that these environmental pollutants play a role in the expression of ASD.

Although neither of these experiments tells us explicitly what causes autism or what will help people with autism, they are a step in the right direction. The more we learn about the causes of autism, the better we services we can provide to people with autism. Before we can establish a cure, we must discover the cause.

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