Relevant Publications

gBASIS Genome Study Outline

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Genetics of Autism Spectrum Disorders

Geschwind, Daniel, H. (2011).

Autism is not a single disorder, but is a neurodevelopmental syndrome commonly referred to as autism spectrum disorder (ASD). It is characterised by a combination of abnormalities in language, social cognition and mental flexibility. Several dozen genes relating to susceptibility to ASD have been identified in the past decade, collectively accounting for 10–20% of ASD cases.

Although these findings demonstrate that there is no single cause for ASD, they still provide important clues about the functional changes associated with the disease. Few of the genes identified are specific to ASD, but instead variably contribute to genetic risk for ASD. Knowing the genes involved in ASD can allow scientists to investigate the link between genetic and biological factors of ASD with the behavioural and cognitive impairments that those with ASD experience. PDF

Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural Traits

Wong, C. C. Y., et al. (2014).

Autism spectrum disorder (ASD) defines a group of common, complex neurodevelopmental disorders. Although ASD is thought to have a strong genetic component, there are many cases of identical, or monozygotic (MZ), twins in which one twin has ASD and the other does not. This discordance indicates a role for non-genetic factors. Epigenetics is the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself. Because MZ twins share an identical DNA sequence, disease-discordant MZ twin pairs such as these provide an ideal model for examining the contribution of environmentally-driven epigenetic factors in disease. PDF