Mechanisms of Heterogeneous Neural Expression of ASD
Abstract
Autism spectrum disorders (ASD) affect approximately 1% of children worldwide. In the absence of a functionally effective cure or early diagnostic tool, the cost of caring for patients is high. It has a significant personal and family impact since childhood. The strikingly high prevalence of ASD, dramatically increasing over the past years, has led to the emotional view that ASD can be traced to a single source, such as vaccines, preservatives, or other environmental factors. Such a perspective harms science and medicine in general. One major obstacle for the research is the lack of human models to study ASD. Animal models are limited to recapitulate the neurological problems associated with the disorders. We generated an innovative human platform for ASD by re-creating neuronal networks in human organoids (aka, mini-brains”), carrying 11 high-risk mutations found in ASD individuals in the laboratory cutting-edge stem cell and genome editing technology. These miniature human brains recapitulate many aspects of the early human neurodevelopment, including defects in synaptogenesis and circuitry formation. By studying the impact of each gene/mutation on brain development, we will learn the points of convergence and divergence that make ASD quite heterogeneous from a behavioral and clinical perspective. This strategy offers a never before explored opportunity to help address ASD pathologies and even personalized treatments.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Dec 05, 2021
- Source ID
- W81XWH2110306
Entities
People
- Alysson Muotri
Organizations
- United States Army
- University of California, San Diego