2020 Seed Grant
Natalia V. De Marco Garcia, Ph.D.
Cornell University
Autism spectrum disorders (ASD) affect 1 in 59 children in the US. Despite the high prevalence and the debilitating nature of these conditions, we have only a vague picture of what causes autism and therefore very few effective diagnostic tools or therapies have been developed. Our project seeks to design a novel approach using advanced microscopy (imaging) techniques in live mouse models carrying genetic mutations in ASD high-risk genes within select cell types. Recent experimental evidence indicates that ASD are strongly associated with impairment in a chemical messenger that provides inhibition to the brain, GABA. The long-term goal of our research is to determine how impaired GABA function in the pre- and postnatal brain leads to lasting neurological changes. The objective of this proposal is to test the potentially transformative hypothesis that dysfunction of specific communication pathways within select circuits during critical windows of development affects brain function and leads to ASD. In the long term, these results may inspire the design of non-invasive diagnostic recording tools to detect abnormal activity patterns in neonates.
