Multiple Models Reveal New Genetic Links in Autism

In recent findings published in the journal Molecular Psychiatry, researchers from the University of California, San Diego School of Medicine have implicated a new gene in idiopathic or non-syndromic autism. The gene is associated with Rett syndrome, a syndromic form of autism. This suggests that different types of autism spectrum disorder (ASD) may share similar molecular pathways. “I see this research as an example of what can be done for cases of non-syndromic autism, which lack a definitive group of identifying symptoms or characteristics,” said the study’s principal investigator. “One can take advantage of genomics to map all mutant genes in the patient and then use their own iPSCs to measure the impact of these mutations in relevant cell types.” Induced pluripotent stem cells, or iPSCs, can reveal potential therapeutic drugs tailored to the individual. In order to effectively exploit iPSCs as a diagnostic tool, researchers need to compare neurons derived from hundreds or thousands of other autistic individuals. In order to do so, researchers are encouraging parents to participate in the “Tooth Fairy Project,” which involves sending researchers a discarded baby tooth from their autistic child. Scientists extract dental pulp cells from the tooth and differentiate them into iPSC-derived neurons to study. To read more about this research, click here.