Marina Kennerson

Professor Marina Kennerson holds the position of Professor of Neurogenetics/Neurosciences with the ANZAC Research Institute, Sydney Local Health District, and is affiliated with Sydney Medical School in the Faculty of Medicine and Health at the University of Sydney. She earned her BSc (Hons) from the University of New South Wales, MSc (Med), and PhD from the University of Sydney. As Group Leader of the Northcott Neuroscience Laboratory and Principal Scientist in the Molecular Medicine Laboratory at Concord Hospital, Professor Kennerson directs the Translational Gene Discovery and Functional Genomics Inherited Peripheral Neuropathies Program. Her research centers on the genetics of hereditary neuropathies and motor neuron diseases, including Charcot-Marie-Tooth (CMT) disease, with contributions spanning over 25 years. Her team employs next-generation sequencing, whole genome sequencing, and advanced models such as patient-derived induced pluripotent stem cell (iPSC) motor neurons, Caenorhabditis elegans, and mouse models to uncover gene mutations and structural variations responsible for these disorders.

The laboratory has identified key genes such as PDK3 causing CMTX6 and ATP7A, and investigates structural variations in CMTX3 and distal hereditary motor neuropathy type 1 (DHMN1). Notable publications include "A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene" (Human Molecular Genetics, 2013), "Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation" (Scientific Reports, 2020), "Structural variation at a disease mutation hotspot: investigating gene dysregulation and the 3D genome" (Frontiers in Genetics, 2022), and "Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards" (Journal of Neurology, Neurosurgery & Psychiatry, 2024). Professor Kennerson co-leads a $3 million MRFF Genomics Health Futures Mission Grant (2021-2025) with Professor Nigel Laing to enhance diagnostics for adult neurodegenerative diseases using whole genome sequencing. She holds leadership positions including Chair of the Asian Oceanic Inherited Neuropathy Consortium, board member of the Charcot-Marie-Tooth and Related Disorders Consortium, member of the CMT Research Foundation Scientific Advisory Board, and Deputy Director (Research) of the Sydney Local Health District Institute of Precision Medicine and Bioinformatics. Her internationally recognized work advances gene discovery, functional studies, and translational outcomes for intractable neurodegenerative diseases.

Professional Email: marina.kennerson@sydney.edu.au