Poster Presentation Australian Society for Medical Research Annual Scientific Meeting 2016

The genetic contribution to non-syndromic intellectual disability (#133)

Georgia Kelly 1 , Soohyun Lee 1 , Helen Cooper 2 , Paul A Dawson 1
  1. Mater Research Institute University of Queensland, Woolloongabba, QLD, Australia
  2. Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia

Intellectual disability (ID) affects approximately 3% of the population and often presents with comorbidities including physical and psychiatric impairments, having substantial economic impact on society. The genetic aetiology of non-syndromic ID, where there are no co-morbid features, is currently under-researched resulting in inadequate counselling for affected families. A recent study curated 245 candidate NS-ID genes from the research literature. However, less than 25 of these genes are routinely screened in clinical settings, highlighting our limited knowledge of the genetic contribution to this important public health issue.

The current study is addressing the contribution of all 245 candidate NS-ID genes by: (1) mining the research literature for cellular and behavioural phenotypes associated with each gene in rodent models; (2) collating the spatial and temporal expression patterns of each human and rodent gene from the Allen Brain Atlas database; and (3) investigating the consequences of siRNA knock-down of selected genes from this list on the cellular morphology of cultured mouse hippocampal neurons. This will be the first study to curate cellular and phenotypic information on all 245 candidate NS-ID genes as an approach to determine the individual contribution of each gene to the NS-ID phenotype. The results of this study will expand our knowledge of the systems level neurobiology of NS-ID and potentially lead to the development of therapeutic targets to alleviate symptoms where genetics are the contributing factor and introduce changes to clinical practice.