SEMINAR: Applying Functional Genomics to Define the Molecular Mechanisms for Brain Growth and Disease

The Seminar: The functions of the human brain are predicated on the correct assembly of neural circuits during development. Failures in this process can lead to brain disorders including epilepsy, intellectual disability and autism. Over the last decade, significant improvements in DNA sequencing have facilitated the detection of causative mutations in brain disorder. However, it is apparent that a significant majority of detected mutations have unknown pathological consequences, termed “variants of unknown significance” (VOUS). Crucially, existing computational-based methods for evaluating VOUS are limited by a lack of experimental data. The prevailing hypothesis is that a significant proportion of VOUS to known and novel genes are pathogenic for brain disorder. In this presentation, I will discuss our recent work to establish the causative nature of VOUS in human brain disorder. In particular, our work on VOUS to protein-coding genes has led to new insights into the key molecular players in brain growth and disease. Our work aligns with the clear and unmet need by clinical geneticists to establish the pathogenic nature of VOUS in human brain disorders.

The Speaker: Julian attained his Bachelor's degree with First Class Honours at the University of Western Australia (1996), then earned his Doctorate from the University of Melbourne, working at the Florey Institute of Neuroscience and Mental Health (2002). In 2004, he undertook postdoctoral training as a C J Martin Biomedical Fellow (NH&MRC) at the National Institute for Medical Research (UK) before returning to Australia in 2008. In 2010, he was recruited as Group Leader at the Australian Regenerative Medicine Institute (Clayton, Australia) and received a Career Development Award (Level 1, NH&MRC). In August 2014, he relocated his research to the Harry Perkins Institute of Medical Research (Perth, Western Australia) where he leads the Brain Growth and Disease Laboratory.