Abstract

Autism spectrum conditions (ASC) are neurodevelopmental and entail social-communication disability alongside unusually narrow interests and difficulties adjusting to unexpected change. The causes associated with the conditions are still being investigated. Although ASC is known to be highly heritable, genome wide association studies have not been successful in identifying ASC -specific candidate genes. The complex and multifactorial nature of ASC and the inaccessibility of post-mortem tissues have hindered progress in research. Recently, a paradigm-shift in psychiatric disorders (including ASC ) has emerged, the ground-breaking technology of induced pluripotency awarded Yamanaka and Gurdon the Nobel Prize in Physiology and Medicine in 2012. Yamanka developed a method to reprogram adult fibroblast cells to a state of pluripotency like that of embryonic stem cells using four transcription factors. The derived induced pluripotent stem cells (iPSCs) can then be differentiated into any cell type, giving scientists the opportunity to model neurological conditions by using cells derived from the patient. In my project, autism-derived iPSCs are differentiated into cortical neurons to mimic the cellular and functional circuitry exhibited in ASC pathophysiology during fetal brain development. This allows to deepen our understanding of autism etiology, provide biomarkers for early detection and identify potential drug targets.