ARI’s Professor Marina Kennerson one of the lead researchers awarded a $3 million MRFF Genomics Health Futures Mission grant.

Professor Kennerson combined forces with Professor Nigel Laing at the Harry Perkins Institute of Medical Research in Western Australia for a project to improve the diagnosis of rare late onset neurogenetics diseases including Charcot-Marie-Tooth (CMT) neuropathy. The team at ANZAC is now part of a trans-Australian collaboration involving teams in Western Australia, Victoria and South Australia. Despite next generation sequencing revolutionising diagnostic testing for these rare neurogenetic diseases up to 30-50% of families remain diagnostically unsolved after excluding the coding mutations in known genes. This trans-Australian collaboration will focus on these unsolved families to query the non-coding “dark genome” for structural variation and repeat expansion mutations using both short and long read whole genome sequencing.