Rate My Professor Marina Kennerson

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.