QBI Neuroscience Seminar: Genome to Phenome - Characterising autism spectrum disorder.
Event Details
- Date:
- Wednesday, 14 May 2014
- Time:
- 12:00 pm - 1:00 pm
- Room:
- Auditorium, level 7
- UQ Location:
- Queensland Brain Institute (St Lucia)
- URL:
- http://www.qbi.uq.edu.au/group-leader-claudianos
- Event category(s):
Event Contact
- Name:
- Mr Reeza Nazer
- Phone:
- 66353
- Email:
- r.nazer@uq.edu.au
- Org. Unit:
- Queensland Brain Institute
Event Description
- Full Description:
- Speaker: Associate Professor Charles Claudianos
Queensland Brain Institute, The University of Queensland
Title:
Genome to Phenome: Characterising autism spectrum disorder.
Abstract:
Modern genetic screening technologies are being used to detect an increasing number of DNA variants associated with polygenic mental health disorders such as autism. However, these data frequently lack a hypothesis concerning the molecular relationship of the mutations. Our laboratory uses conceptual approaches that couple complex network models with novel computational techniques to analyse genetic screening data. The hypothetical ‘AXAS’ gene network model that profiles functional patterns of heterogeneous DNA variants overrepresented in autism was recently used to analyze genome sequencing data from an Australian ASD cohort. We found inherited variants from parents with a broader autism phenotype (BAP) and de novo variants that likely arise in progenitor germ line cells of the father were significantly associated with ASD. Putative rare causal variants were found to cluster in key neurobiological processes and are overrepresented in functions involving neuronal development, signal transduction and synapse development including the neurexin trans-synaptic complex. We show how a complex gene network model can be used to map combinations of inherited and de novo variations in families with ASD including variants that converge in the L1CAM pathway. From this basis we focus on the biological relevance of pathways and molecules overrepresented in these disorders. Specifically we investigate neurexins and neuroligins and interacting miRNAs involved in synapse development and examine biological relevance of these molecules in behaviours indicative of autism using small animal models.
Directions to UQ
- Google Map:
-
- Directions:
- St Lucia Campus | Gatton campus.
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