UT Southwestern scientists have adapted a classic research technique called forward genetics to identify new genes involved in autism spectrum disorder (ASD). In a study published this week in eLife, the researchers used this approach in mice to find one such gene called KDM5A.
Approximately 1 in 54 children in the U.S. is diagnosed with ASD, a neurodevelopmental disorder that causes disrupted communication, difficulties with social skills, and repetitive behaviors. As a disease with a strong genetic component, it is hypothesized that thousands of genetic mutations may contribute to ASD. But to date, only about 30 percent of cases can be explained by known genetic mutations.
For decades, forward genetics has been used to find mutations that cause disease. It involves inducing genetic mutations in mice, screening for certain phenotypes, and then identifying the causative mutation through sequencing of all genetic material of an organism, or its genome.
Read more at: UT Southwestern Medical Center
Bruce Beutler, M.D. (Photo Credit: Brian Coats for UT Southwestern Medical Center)