photo of

Details

Role Group Leader / Co-Director BLC
Research area Bruce Lefroy Centre

Contact

Available for student supervision
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

  • Lessel, D, Vaz, B, Halder, S, Lockhart, PJ, Marinovic-Terzic, I, Lopez-Mosqueda, J, Philipp, M, Sim, JCH, Smith, KR, Oehler, J, et al. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.. Nat Genet 46(11) : 1239 -1244 2014
    view publication
  • Coe, BP, Witherspoon, K, Rosenfeld, JA, van Bon, BWM, Vulto-van Silfhout, AT, Bosco, P, Friend, KL, Baker, C, Buono, S, Vissers, LELM, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay.. Nat Genet 46(10) : 1063 -1071 2014
    view publication
  • Smith, KR, Leventer, RJ, Mackay, MT, Pope, K, Gillies, G, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ. Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.. Int J Stroke 9(6) : E26 -E27 2014
    view publication
  • Evans-Galea, MV, Pébay, A, Dottori, M, Corben, LA, Ong, SH, Lockhart, PJ, Delatycki, MB. Cell and gene therapy for Friedreich ataxia: progress to date.. Hum Gene Ther 25(8) : 684 -693 2014
    view publication
  • Wilson, GR, Sunley, J, Smith, KR, Pope, K, Bromhead, CJ, Fitzpatrick, E, Di Rocco, M, van Steensel, M, Coman, DJ, Leventer, RJ, et al. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.. Eur J Hum Genet 22(6) : 741 -747 2014
    view publication

Page 25 of 40