Work in genetics and genomics continues to rapidly expand our understanding of the causes of autism

Dr. Elizabeth Ruzzo and Dr. Laura Perez-Cano

The Geschwind Lab continues to make genetic discoveries that are having a large impact on our understanding of autism. The latest, in collaboration with researchers at Stanford University (Dr. Dennis Wall) was published in a leading journal, Cell, in August and featured in many media outlets. Led by post-doctoral fellows Elizabeth Ruzzo PhD and Laura Perez-Cano, PhD, the team conducted genetic analyses of 2,300 people from nearly 500 families from the AGRE cohort (https://www.autismspeaks.org/agre) with at least two children with autism. Ruzzo, Perez-Cano and colleagues found evidence for 69 genes that were associated with an increased risk of autism, 16 of which had not previously been identified as linked to autism. By using innovative network biology methods based on “guilt by association”, they were also able to find hundreds of additional genes that have a high likelihood of contributing to autism, implicating new pathways that had not been previously associated with autism. Dr. Ruzzo was interviewed on local news and the video is available at this link –(news stories at: https://www.nbclosangeles.com/news/local/Researchers-Identifies-Genes-that-Increase-Autism-Risk-528228751.html; https://www.usnews.com/news/health-news/articles/2019-08-13/scientists-uncover-more-autism-genes). This work is in addition to other exciting work published earlier in the year and performed in collaboration with the laboratory of Grace Xiao PhD, professor of bioinformatics, that identified a new genetic mechanism called RNA editing that was altered in autism (http://newsroom.ucla.edu/releases/ucla-led-team-uncovers-critical-new-clues-about-what-goes-awry-in-brains-of-people-with-autism). Overall, work in genetics and genomics continues to rapidly expand our understanding of the causes of autism and provide a basis for developing molecularly targeted therapy.