photo of Prof Paul Lockhart

Prof Paul Lockhart

Prof Paul Lockhart

Details

Role Group Leader / Co-Director BLC
Group Neurogenetics (BLC)

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 Childrens 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 Childrens, 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 Childrens 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 Childrens 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 Childrens, 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

  • Stutterd, CA, Vanderver, A, Lockhart, PJ, Helman, G, Pope, K, Uebergang, E, Love, C, Delatycki, MB, Thorburn, D, Mackay, MT, et al. Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services. European Journal of Medical Genetics 65(9) : 104551 2022
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  • Di Donato, N, Guerrini, R, Billington, CJ, Barkovich, AJ, Dinkel, P, Freri, E, Heide, M, Gershon, ES, Gertler, TS, Hopkin, RJ, et al. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.. Brain 2022
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  • Barbier, M, Bahlo, M, Pennisi, A, Jacoupy, M, Tankard, RM, Ewenczyk, C, Davies, KC, Lino‐Coulon, P, Colace, C, Rafehi, H, et al. Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25. Annals of Neurology 92(1) : 122 -137 2022
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  • Ogier, JM, Gao, Y, Dunne, EM, Wilson, MA, Ranganathan, SC, Tesch, GH, Nikolic Paterson, DJ, Dabdoub, A, Burt, RA, Nayagam, BA, et al. ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death. Journal of Molecular Medicine 100(5) : 797 -813 2022
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  • Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, et al. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. American Journal of Human Genetics 109(4) : 601 -617 2022
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