Prof Paul Lockhart
Prof Paul Lockhart
Details
Role
Group Leader / Co-Director BLC
Research area
Bruce Lefroy Centre
Group
Neurogenetics (BLC)
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 (MCRI)
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, to establish 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 an 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.
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, to establish 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 an 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 (MCRI)
Paul received his PhD in Genetics (Title: Molecular analysis of copper transport in...
Paul received his PhD in Genetics (Title: Molecular analysis of copper transport in...
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 (MCRI)
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, to establish 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 an 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.
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, to establish 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 an 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
- Chen, Y, Dawes, R, Kim, HC, Ljungdahl, A, Stenton, SL, Walker, S, Lord, J, Lemire, G, Martin-Geary, AC, Ganesh, VS, et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.. Nature 632(8026) : 832 -840 2024 view publication
- Cortese, A, Beecroft, SJ, Facchini, S, Curro, R, Cabrera-Serrano, M, Stevanovski, I, Chintalaphani, SR, Gamaarachchi, H, Weisburd, B, Folland, C, et al. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.. Nat Commun 15(1) : 6327 2024 view publication
- Donoghue, S, Wright, J, Voss, AK, Lockhart, PJ, Amor, DJ. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment.. Mol Genet Metab 142(1) : 108360 2024 view publication
- Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A, Lord, J, Ganesh, VS, Ma, J, Martin-Geary, AC, et al. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.. medRxiv 2024 view publication
- 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 147(4) : 1264 -1277 2024 view publication
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