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
Wu, Y, Al-Janabi, H, Mallett, A, Quinlan, C, Scheffer, IE, Howell, KB, Christodoulou, J, Leventer, RJ, Lockhart, PJ, Stark, Z, et al.
Parental health spillover effects of paediatric rare genetic conditions..
Qual Life Res
29(9)
:
2445 -2454
2020
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Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ, Bahlo, M.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data..
Mov Disord
35(9)
:
1675 -1679
2020
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Herkert, JC, Verhagen, JMA, Yotti, R, Haghighi, A, Phelan, DG, James, PA, Brown, NJ, Stutterd, C, Macciocca, I, Leong, K, et al.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants..
Am Heart J
225:
108 -119
2020
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Spencer-Smith, M, Knight, JL, Lacaze, E, Irc5 Consortium, Depienne, C, Lockhart, PJ, Richards, LJ, Heron, D, Leventer, RJ, Robinson, GA.
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations..
Dev Med Child Neurol
62(6)
:
758 -762
2020
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Aboud Syriani, D, Wong, D, Andani, S, De Gusmao, CM, Mao, Y, Sanyoura, M, Glotzer, G, Lockhart, PJ, Hassin-Baer, S, Khurana, V, et al.
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort..
Neurol Genet
6(3)
:
e440
2020
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