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
Bozaoglu, K, Gao, Y, Stanley, E, Fanjul-Fernández, M, Brown, NJ, Pope, K, Green, CC, Vlahos, K, Sourris, K, Bahlo, M, et al.
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder..
Stem Cell Res
39:
101516
2019
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Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al.
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS..
Am J Hum Genet
105(1)
:
151 -165
2019
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Lee, WS, Stephenson, SEM, Howell, KB, Pope, K, Gillies, G, Wray, A, Maixner, W, Mandelstam, SA, Berkovic, SF, Scheffer, IE, et al.
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA..
Ann Clin Transl Neurol
6(7)
:
1338 -1344
2019
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Stephenson, SE, Djaldetti, R, Rafehi, H, Wilson, GR, Gillies, G, Bahlo, M, Lockhart, PJ.
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update..
Parkinsonism Relat Disord
64:
308 -311
2019
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Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, et al.
Pathogenic Variants in GPC4 Cause Keipert Syndrome..
Am J Hum Genet
104(5)
:
914 -924
2019
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