Autism spectrum disordermolecular profiling analysis and identification of candidate genes through complex systems biology approaches

Abstract

Autism spectrum disorders (ASD) encompass a wide range of neurological and developmental conditions characterized by alterations in social skills, repetitive behaviors, speech and nonverbal communication. There are many subtypes of autism, influenced by a combination of genetic, neurological, immunological and environmental factors and often accompanied by a substantial burden of comorbidity. The enormous clinical and etiological variability among individuals with ASD makes systems biology the most promising approach in the search for effective treatments. In this doctoral thesis different strategies of the emerging field of systems biology are explored to better understand the clinical and neurobiological heterogeneity of autism by using genome-wide search for autism candidate genes. Our goal is to disentangle the complexity of ASD underlying neurological mechanisms, overlapping genes, comorbidities and differential evolutionary constraints, in order to identify novel genes and biological pathways that may specifically impact functional outcomes, contributing to advance in the field of personalized medicine.