Autism spectrum disorders (ASD) are diagnostically characterized by behaviors (social-communication deficits and restricted, repetitive behaviors). As a result, many of those diagnosed with ASD have variable patterns of behavior, and represent many different diseases with similar features. By studying genetic sequences (biologically inherited codes that account for a variety of physical characteristics and behaviors) and mutations (when the genetic sequence is permanently altered) such as deletions or duplications, we can get a better biological picture of ASD. With today’s focus and effort in furthering genetic research, more and more genetic differences are being discovered.
Dr. Jeremy Veenstra-VanderWeele from Columbia University is one of the few scientists that serve dual roles to help the autism community, treating people and working in a lab. Because of this unique perspective, his presentation focuses on how research findings in the lab help individuals with autism in the clinic, and vice-versa. He discusses a couple different genetic models that the research community uses. One way the community develops treatments is to “fix” the biological difference with a certain drug, and then observe any changes in behavior. The second way is to observe a behavior rooted in a biological difference (such as levels of oxytocin, a hormone that acts in the brain, and influences certain behaviors), and develop a treatment to account for the difference. Due to the diversity within ASD, researchers are more likely to find treatments that work for only a part of the population at a time. Please watch the video below for Dr. Veenstra-VanderWeele's complete presentation on how genetic research can lead to the development of treatments and deeper understanding of ASD.