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
Read, JL, Davies, KC, Thompson, GC, Delatycki, MB, Lockhart, PJ.
Challenges facing repeat expansion identification, characterisation, and the pathway to discovery..
Emerg Top Life Sci
7(3)
:
339 -348
2023
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Smolen, C, Jensen, M, Dyer, L, Pizzo, L, Tyryshkina, A, Banerjee, D, Rohan, L, Huber, E, El Khattabi, L, Prontera, P, et al.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants..
Am J Hum Genet
110(12)
:
2015 -2028
2023
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Macdonald-Laurs, E, Warren, AEL, Francis, P, Mandelstam, SA, Lee, WS, Coleman, M, Stephenson, SEM, Barton, S, D'Arcy, C, Lockhart, PJ, et al.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia..
Brain
2023
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Lee, WS, Lockhart, PJ.
Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond..
Neural Regen Res
18(11)
:
2389 -2390
2023
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Lee, WS, Macdonald-Laurs, E, Stephenson, S, D'Arcy, C, Maixner, W, Harvey, AS, Lockhart, PJ, Leventer, RJ.
Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2..
Neurology
101(2)
:
78 -82
2023
view publication