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
Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, M-L, Anderson, V, Bitoun, P, et al.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance..
Nat Genet
49(4)
:
511 -514
2017
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Stessman, HAF, Xiong, B, Coe, BP, Wang, T, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, et al.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases..
Nat Genet
49(4)
:
515 -526
2017
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Marsh, APL, Yap, P, Tan, T, Pope, K, White, SM, Chong, B, Mcgillivray, G, Boys, A, Stephenson, SEM, Leventer, RJ, et al.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9..
Am J Med Genet A
173(3)
:
820 -823
2017
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Leventer, RJ, Scerri, T, Marsh, APL, Maixner, W, MacGregor, D, Harvey, AS, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
Investigating the role of somatic mutations in malformations of brain development.
Pathology
49:
s33
2017
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Amor, DJ, Marsh, APL, Storey, E, Tankard, R, Gillies, G, Delatycki, MB, Pope, K, Bromhead, C, Leventer, RJ, Bahlo, M, et al.
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency..
Neurol Genet
2(6)
:
e114
2016
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