Autism: Comparative Genomics and Interactomics. C Barth, N Bishop.
Article: Autism: Comparative Genomics and Interactomics.
Authors: C Barth, N Bishop
Source: Comprehensive Guide to Autism, pp 2853–2880. New York: Springer, 2014.
Date: January 2014
Many common human neurological disorders, including autism spectrum disorder (ASD), epilepsy, Alzheimer’s disease, attention-deficit/hyperactivity disorder (ADHD), and schizophrenia, have complex genetics and inheritance patterns. While understanding the molecular mechanisms of single-gene disorders is comparatively straightforward, complex diseases are, by their very nature, more difficult to study. However, there is a pressing need to understand complex disorders, as these human disorders are far more common than simple disorders, with ASD being a prime example, affecting around 1 in 100 people. Fortunately, sequencing of the human genome has dramatically accelerated the progression in understanding many complex human diseases. In the post-human-genome era, new technologies, high-throughput data, and computational resources are providing further tools that can be exploited to facilitate our understanding of disorders such as ASD. This chapter highlights the hundreds of genes associated with ASD, including those causing syndromic forms of ASD, such as tuberous sclerosis. The key role interactomics, pathway analysis, and comparative genomics are playing in increasing our understanding of the pathophysiology of tuberous sclerosis and idiopathic ASD is highlighted. Comparative genomic techniques also play a key role in assessing appropriate model organisms and ensuring optimal interpretation of data from animal models, including studies designed to evaluate potential therapeutics. Therefore, data from genetic studies, when combined with comparative genomics and interactomics, are playing a major role in furthering our understanding of ASD.