SEMINAR: �How to SNARE a mutation using massively parallel sequencing."

Mark was awarded his Ph.D. in 2004 from the Children’s Medical Research Institute in Westmead characterising the first mouse model for the congenital muscle disease nemaline myopathy. From there, Mark shifted focus on the study of neurological disorders from muscle to the brain by joining the Neurogenetics Research Program headed by Prof Jozef Gécz at the Women’s and Children’s Hospital in Adelaide. Using a combination of bioinformatic, cell and molecular biology approaches Mark has contributed to the discovery and characterisation of novel mutations in seven genes associated with learning disorders. Identifying these genes helps to understand the biology of cognition and provides avenues to explore for future therapy.