photo of Prof Paul Lockhart

Prof Paul Lockhart

Prof Paul Lockhart

Details

Role Group Leader / Co-Director BLC
Research area Bruce Lefroy Centre

Contact

Available for student supervision
Professor Paul Lockhart is the Group Leader of Neurogenetic Research and Co-Director of the Bruce Lefroy Centre at the Murdoch Children's Research Institute.

Paul received his PhD in Genetics (Title: Molecular analysis of copper transport in sheep) from the University of Melbourne in 2000. He was awarded a NHMRC CJ Martin Fellowship to study the genetics of neurodegenerative disorders, specifically Parkinson's disease, with Professor John Hardy (2000-2001) and Professor Matthew Farrer (2002-2003) at The Mayo Clinic, Florida. He returned to Australia in 2004 and joined the newly formed Bruce Lefroy Centre (BLC) at Murdoch Children's Research Institute, with the aim of establishing a laboratory research group to complement the clinical and public health research activities of the BLC. He received a NHMRC RD Wright Fellowship in 2005 and was appointed Co-Director of the BLC in 2009.

Paul initiated a new research direction in 2009, utilising new sequencing technologies to identify genes causing neurogenetic disorders and was awarded a NHMRC CDA2 Fellowship in 2012 and Vincent Chiodo Foundation Fellowship in 2019. His research has identified 26 causal and >100 risk genes for genetic disorders in the last decade, delineating new pathways to disease and translating these research findings to improved diagnostics, treatment and prevention of disease.
Professor Paul Lockhart is the Group Leader of Neurogenetic Research and Co-Director of the Bruce Lefroy Centre at the Murdoch Children's Research Institute.

Paul received his PhD in Genetics (Title: Molecular analysis of copper transport in sheep)...
Professor Paul Lockhart is the Group Leader of Neurogenetic Research and Co-Director of the Bruce Lefroy Centre at the Murdoch Children's Research Institute.

Paul received his PhD in Genetics (Title: Molecular analysis of copper transport in sheep) from the University of Melbourne in 2000. He was awarded a NHMRC CJ Martin Fellowship to study the genetics of neurodegenerative disorders, specifically Parkinson's disease, with Professor John Hardy (2000-2001) and Professor Matthew Farrer (2002-2003) at The Mayo Clinic, Florida. He returned to Australia in 2004 and joined the newly formed Bruce Lefroy Centre (BLC) at Murdoch Children's Research Institute, with the aim of establishing a laboratory research group to complement the clinical and public health research activities of the BLC. He received a NHMRC RD Wright Fellowship in 2005 and was appointed Co-Director of the BLC in 2009.

Paul initiated a new research direction in 2009, utilising new sequencing technologies to identify genes causing neurogenetic disorders and was awarded a NHMRC CDA2 Fellowship in 2012 and Vincent Chiodo Foundation Fellowship in 2019. His research has identified 26 causal and >100 risk genes for genetic disorders in the last decade, delineating new pathways to disease and translating these research findings to improved diagnostics, treatment and prevention of disease.

Top Publications

  • Coleman, M, Pinares-Garcia, P, Stephenson, SE, Lee, WS, Kooshavar, D, Mclean, CA, Howell, KB, Leventer, RJ, Reid, CA, Lockhart, PJ. Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.. Neurol Genet 10(2) : e200135 2024
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  • Shepherdson, JL, Hutchison, K, Don, DW, McGillivray, G, Choi, T-I, Allan, CA, Amor, DJ, Banka, S, Basel, DG, Buch, LD, et al. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.. Am J Hum Genet 111(3) : 487 -508 2024
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  • Donoghue, S, Wright, J, Voss, AK, Lockhart, PJ, Amor, DJ. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment.. Mol Genet Metab 142(1) : 108360 2024
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  • Borsche, M, Thomsen, M, Szmulewicz, DJ, Lübbers, B, Hinrichs, F, Lockhart, PJ, Lohmann, K, Helmchen, C, Brüggemann, N. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.. J Neurol 271(2) : 1023 -1027 2024
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  • Tankard, RM, Bennett, MF, Degorski, P, Delatycki, MB, Lockhart, PJ, Bahlo, M. Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data. 157792 2024
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