Speaker: Dr Mark Corbett, Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide
Title: The long and short of repeat expansion disorder discovery and diagnosis
Chair: Associate Professor Joanne Young, Solid Tumour Group, BHI, TQEH
Speaker biography: Mark is a postdoctoral research fellow based at the University of Adelaide, Adelaide Medical School. He has applied modern DNA and RNA sequencing techniques to implicate over 30 new genes in neurodevelopmental disorders including the first discovery of an epilepsy gene (TBC1D24) by short read sequencing and most recently identified the long-hidden repeat expansion which causes Familial Adult Myoclonic Epilepsy linked to chromosome 2. Collectively, his discoveries have led to genetic diagnoses for thousands of individuals living with neurodevelopmental disorders around the world and new insights into the molecular mechanisms behind these conditions.
Zoom ID is 849 7786 7996 Password 614522 or direct link
