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
Vaz, B, Popovic, M, Newman, JA, Fielden, J, Aitkenhead, H, Halder, S, Singh, AN, Vendrell, I, Fischer, R, Torrecilla, I, et al.
Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair..
Mol Cell
64(4)
:
704 -719
2016
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Wan, J, Steffen, J, Yourshaw, M, Mamsa, H, Andersen, E, Rudnik-Schöneborn, S, Pope, K, Howell, KB, McLean, CA, Kornberg, AJ, et al.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia..
Brain
139(11)
:
2877 -2890
2016
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Phelan, DG, Anderson, DJ, Howden, SE, Wong, RCB, Hickey, PF, Pope, K, Wilson, GR, Pébay, A, Davis, AM, Petrou, S, et al.
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy..
Eur Heart J
37(33)
:
2586 -2590
2016
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Rivera, B, Gayden, T, Carrot-Zhang, J, Nadaf, J, Boshari, T, Faury, D, Zeinieh, M, Blanc, R, Burk, DL, Fahiminiya, S, et al.
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors..
Acta Neuropathol
131(6)
:
847 -863
2016
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Kruse, CA, Pardo, CA, Hartman, AL, Jallo, G, Vining, EPG, Voros, J, Gaillard, WD, Liu, J, Oluigbo, C, Malone, S, et al.
Rasmussen encephalitis tissue transfer program..
Epilepsia
57(6)
:
1005 -1007
2016
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