Professor Marina Kennerson who directs the team at the Northcott Neuroscience Laboratory, ANZAC Research Institute in Sydney Australia is one of the lead researchers awarded a $3 million grant from the Medical Research Future Fund (MRFF) Genomics Health Futures Mission scheme. Professor Kennerson combined forces with Professor Nigel Laing at the Harry Perkins Institute of Medical Research in Western Australia to submit a project for improving the diagnosis of rare adult onset neurogenetic diseases including CMT. “It is exciting to be part of a trans Australian collaboration involving teams in Western Australia, Victoria, South Australia and Queensland” said Professor Kennerson.

Gene testing for CMT has been revolutionised by next generation sequencing technologies which can screen all the coding DNA of genes in the one test (called whole exome sequencing; WES). Over 1000 mutations have been identified in more than 100 known CMT genes. Despite this success, 30 to 40% of CMT families remain genetically undiagnosed after the gene coding DNA has been excluded for mutations.

This grant will focus on these genetically unsolved families using whole genome sequencing (WGS) to screen the non-coding DNA for mutations. “Our laboratory has specialized in looking for disease causing DNA re-arrangements known as structural variations and repeat expansions which often lie in the non-coding or ‘junk’ DNA. It is now imperative to investigate the non-coding DNA as it contains important DNA sequences that regulate switching genes on and off.  “If we think of our genes as all the different light bulbs in our household, the focus has been on finding faults in the light bulbs or coding DNA. This project will allow us to look for faulty changes not only in novel light bulbs (new genes) but also the in the electrical wiring and power points (non-coding DNA) that are switching the light bulbs on and off” said Professor Kennerson.

Professor Kennerson’s contribution to the trans Australian collaboration will be expertise in CMT genetics/genomics and her comprehensive research program using patient motor neurons and C. elegans (worms) to model new DNA mutations identified for pre-clinical studies. “I am thrilled the government has acknowledged the importance of solving genetically undiagnosed CMT families in Australia and to be recognized as an essential neurogenetics research hub for this trans Australian collaborative effort” said Professor Kennerson. Professor Kennerson is a member of the CMT Research Foundation’s Scientific Advisory Board and is the chair of the Scientific Program Committee for the first annual Global CMT Research Convention.