Professor Phillipa Lamont

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Clinical Head, Molecular Medicine

Professor Phillipa Lamont

Molecular Medicine
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[email protected]

Clinical Head, Molecular Medicine

Professor Phillipa Lamont

Molecular Medicine

Profile

Professor Phillipa Lamont was born in Western Australia, and obtained her MB.BS from the University of Western Australia. She obtained her Ph.D in Neuropathology from Sydney University. She spent an 18-month Post-doc in the molecular genetics laboratory of Professor Anita Harding at the Hospital for Neurology, Neurosurgery and Psychiatry, Queen Square, London. Professor Lamont’s research interests there included characterisation of mitochondrial diseases, including Friedreich’s ataxia.

Initially specialising in Paediatric Neurology, Professor Lamont trained at the Perth Children’s Hospital, Sydney Children’s Hospital, and Great Ormond Street Hospital for Children. Upon her return to Perth in 1996, she trained in Adult Neurology, mainly at Royal Perth Hospital. In response to the enormous effect the emerging field of molecular genetics was beginning to have in the field of neurology, Professor Lamont established the Western Australian Neurogenetics service, which she continues to lead. Throughout that time, she has also acted as a clinical consultant to the Diagnostic Genomics laboratory, Pathwest. She also leads the Neuromuscular service and clinic at Perth Children’s Hospital.

Professor Lamont spent 14 years on the board of Rocky Bay, only leaving to join the Perkins as clinical head of the molecular medicine division. She remains an honorary life member of Rocky Bay. She is on the Genetics subcommittee of the Australian and New Zealand Association of Neurologists

Research interests

    • Characterisation of patients with neurological disease which is likely to have a genetic cause. This includes precise phenotyping, pedigree information, ancillary investigations, and diagnosis.
    • Working closely with both the routine Diagnostic Genomics laboratory at Pathwest, and Professor Nigel Laing’s Perkins Neurogenetic Diseases Group to elucidate the genetic cause of these diseases. This includes both identifying causative mutations in known genes, and discovering new genes.
    • Participating in trials of new treatments for neurogenetic disease.

Selected Publications

    1. Beecroft SJ, Yau KS, Allcock RJN, Mina K, Gooding R, Faiz F, Atkinson VJ, Wise C, Sivadorai P, Trajanoski D, Kresoje N, Ong R, Duff RM, Cabrera-Serrano M, Nowak KJ, Pachter N, Ravenscroft G, Lamont PJ, Davis MR, Laing NG “Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral centre experience” Ann Clin Transl Neurol 2020 March“ [Epub ahead of print]
    2. Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laura M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Zuchner S, Stojkovic T, Laing NG, Roxburgh RH, Houlden H, Reilly MM “Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion” Brain 2020 Feb 1 143(2) 480-490 doi 10.1093/brain/awz418
    3. Emilia Servan Morilla; Macarena Cabrera Serrano; Elroy Rivas Infante; Alejandra Carvajal; Phillipa J Lamont; Ana Lara Pelayo; Gina Ravenscroft; Reimar Junkerstorff; Jason Dyke; Susan Fletcher; Abbie Adams; Fabiola Mavillard Saborido; Miguel Angel Fernandez Garcia; Jose Luis Nieto Gonzalez; Nigel G Laing; Carmen Paradas Lopez “Altered myogenesis and premature senescence underlie human TRIM32-related myopathy” Acta Neuropathologica Communications, 2019 Mar 1:7(1)
    4. Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A. “STRetch: detecting and discovering pathogenic short tandem repeat expansions.Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2
    1. Oates, E. C., K. J. Jones, S. Donkervoort, A. Charlton, S. Brammah, J. E. Smith, 3rd, J. S. Ware, K. S. Yau, L. C. Swanson, N. Whiffin, A. J. Peduto, A. Bournazos, L. B. Waddell, M. A. Farrar, H. A. Sampaio, H. L. Teoh, J. Lamont, D. Mowat, R. B. Fitzsimons, A. J. Corbett, M. M. Ryan, G. L. O’Grady, S. A. Sandaradura, R. Ghaoui, H. Joshi, J. L. Marshall, M. A. Nolan, S. Kaur, J. Punetha, A. Topf, E. Harris, M. Bakshi, C. A. Genetti, M. Marttila, U. Werlauff, N. Streichenberger, A. Pestronk, I. Mazanti, J. R. Pinner, C. Vuillerot, C. Grosmann, A. Camacho, P. Mohassel, M. E. Leach, A. R. Foley, D. Bharucha-Goebel, J. Collins, A. M. Connolly, H. R. Gilbreath, S. T. Iannaccone, D. Castro, B. B. Cummings, R. I. Webster, L. Lazaro, J. Vissing, S. Coppens, N. Deconinck, H. M. Luk, N. H. Thomas, N. C. Foulds, M. A. Illingworth, S. Ellard, C. A. McLean, R. Phadke, G. Ravenscroft, N. Witting, P. Hackman, I. Richard, S. T. Cooper, E. J. Kamsteeg, E. P. Hoffman, K. Bushby, V. Straub, B. Udd, A. Ferreiro, K. N. North, N. F. Clarke, M. Lek, A. H. Beggs, C. G. Bonnemann, D. G. MacArthur, H. Granzier, M. R. Davis, and N. G. Laing. 2018. ‘Congenital Titinopathy: Comprehensive characterization and pathogenic insights’, Ann Neurol, 83: 1105-24.
    2. Lassuthova, P., A. P. Rebelo, G. Ravenscroft, J. Lamont, M. R. Davis, F. Manganelli, S. M. Feely, C. Bacon, D. S. Brozkova, J. Haberlova, R. Mazanec, F. Tao, C. Saghira, L. Abreu, S. Courel, E. Powell, E. Buglo, D. M. Bis, M. F. Baxter, R. W. Ong, L. Marns, Y. C. Lee, Y. Bai, D. G. Isom, R. Barro-Soria, K. W. Chung, S. S. Scherer, H. P. Larsson, N. G. Laing, B. O. Choi, P. Seeman, M. E. Shy, L. Santoro and S. Zuchner. “Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.” Am J Hum Genet 2018;102(3): 505-514.
    3. Duff, R. M., A. M. Shearwood, J. Ermer, G. Rossetti, R. Gooding, T. R. Richman, S. Balasubramaniam, D. R. Thorburn, O. Rackham, J. Lamont and A. Filipovska. “A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.” Mitochondrion 2015;25:113-119.
    4. Macarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, Russell D. Johnsen, Mark R. Davis, Alastair Corbett, Stephen Reddel, Carolyn M. Sue, Christina Liang, Leigh B. Waddell, Simranpreet Kaur, Monkol Lek, Kathryn N. North, Daniel G. MacArthur, Phillipa J. Lamont, Nigel F. Clarke and Nigel G. Laing. “Expanding the phenotype of GMPPB mutations” Brain 2015;138:836-44.
    5. Lamont, W. Wallefeld, D. Hilton-Jones, et al: “New mutations widen the phenotypic spectrum of slow skeletal/ β-cardiac myosin (MYH7) distal myopathy (Laing distal myopathy).” Human Mutation 2014;35(7):868-879
    6. Sambuughin, N., K. S. Yau, M. Olive, R. M. Duff, M. Bayarsaikhan, S. Lu, L. Gonzalez-Mera, P. Sivadorai, K. J. Nowak, G. Ravenscroft, F. L. Mastaglia, K. N. North, B. Ilkovski, H. Kremer, M. Lammens, B. G. van Engelen, V. Fabian, Lamont, M. R. Davis, N. G. Laing, and L. G. Goldfarb. 2010. ‘Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores’, Am J Hum Genet, 87: 842-7.
    7. Tsaousidou, M. K., K. Ouahchi, T. T. Warner, Y. Yang, M. A. Simpson, N. G. Laing, P. A. Wilkinson, R. E. Madrid, H. Patel, F. Hentati, M. A. Patton, A. Hentati, J. Lamont, T. Siddique, and A. H. Crosby. 2008. ‘Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration’, American Journal of Human Genetics, 82: 510-5.
    8. C Meredith, R Herrmann, C Parry, K Liyanage, DE Dye, HJ Durling, RM Duff, K Beckman, M de Visser, MM van der Graaff, P Hedera, JK Fink, EM Petty, P Lamont, V Fabian, L Bridges, T Voit, FL Mastaglia, NG Laing: “Mutations in the slow skeletal fibre myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1)” Am J Hum Genet 2004; 75: pp 703-708
    9. IMP Gommans, M Davis, K Saar, M Lammens, F Mastaglia, P Lamont, G van Duijnhoven, HJ ter Laak, A Reis, OJM Vogels, N Laing, BGM van Engelen, H Kremer: “A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions” Brain 2003; 126: 1545-1551
    10. MR Davis, E Haan, H Jungbluth, C Sewry, K North, F Muntone, P Kunzer, P Lamont, A Bankier, P Tomlinson, A Sanchez, P Walsh, L Nagarajan, C Oley, A Colley, A Gedeon, R Quinliven, J Dixon, D James, CR Muller, N Laing: “Novel and principle mutation hot spot for muscle central core pathology in the C-terminal transmembrane region of the RYR1 gene” Neuromuscular Disorders 2003; 13: 151-157
    11. PJ Lamont, CE Woodward, R Surtees, JV Leonard, NW Wood, AE Harding: “Clinical and laboratory findings in referrals for mitochondrial DNA analysis” Archives of Disease in Childhood 1998; 79: 22-27
    12. PJ Lamont, R Surtees, CE Woodward, JV Leonard, NW Wood, EA Harding: “Survey of the clinical and laboratory findings of 190 children referred for mitochondrial DNA analysis” (abstract) J Neurol 1996; 243: 109.
    13. da Silva, P. Lamont, R. Pamphlett, J. Hilton: “Diaphragm fibre types in the sudden infant death syndrome” Medical Journal of Australia, 1992: 156: 886-7.