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Professor Nigel Laing AO

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Preventive Genetics

Professor Nigel Laing AO

Preventive Genetics

Professor Nigel Laing AO


Professor Nigel Laing was born in Scotland and obtained both his BSc (Hons) in Pharmacology (1976) and PhD in Physiology (1979) from the University of Edinburgh. He spent one year as a Post-doc at the University of Oslo (1980) before coming to The University of Western Australia in January 1981.

His PhD and early career research was as a developmental neurobiologist investigating how motor neurons and muscles interact and determine each other’s properties in the developing embryo. For a 12-month period, July 1987 to June 1988, Professor Laing re-trained in molecular genetics with Professor Teepu Siddique in Professor Allen Roses’ Laboratory at Duke University North Carolina.

Returning to Western Australia in 1988, Professor Laing had the two tasks of developing molecular neurogenetic research and molecular neurogenetic diagnostics at The Australian Neuromuscular Research Institute and Royal Perth Hospital respectively. He successfully investigated Australian families with mostly dominantly inherited diseases, playing a role in identifying mutations in SOD1 as a cause of familial motor neuron disease; mutations in tropomyosin as the first known cause of nemaline myopathy; mutations in actin as a major cause of severe congenital myopathies of various types, and mutations in myosin as the cause of “Laing” myopathy.

In 2015 Professor Laing was elected a Fellow of the Australian Academy of Health and Medical Sciences.

Nigel was appointed an Officer of the Order of Australia in The Queen’s Birthday 2015 Honours List for distinguished service to medicine in the field of neuromuscular disorders, as an academic and researcher, to medical education, and through contributions to professional associations.

Why we do what we do: preventive genetics

Watch Professor Nigel Laing AO’s Wesfarmers Harry Perkins Oration (2018) for a full run through of his research area focus:

Research interests

In recent years, Professor Laing has moved the focus of his research to prevention genetics through three research themes:

  • Reproductive carrier screening
  • Development of improved diagnostics
  • Development of treatments for genetic muscle diseases.

Selected Publications

1. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston S, Tanzi R, Halperin JJ, Herzfeldt B, Van den Berg R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella J, Horvitz HR, Brown Jr RH. (1993). Mutations in the gene encoding Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. Nature362:59-62. [NCBI PubMed Entry] [IF 31.0]

2. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, Haan E. (1995). A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nature Genetics 9:75-79. [NCBI PubMed Entry] [IF 26.5]

3. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hubner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Muller CR, Nurnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. (1999). Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genetics 23:208-12. [NCBI PubMed Entry] [IF 30.7]

4. Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, De Visser M, Van Der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. (2004). Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1). Am J Hum Genet 75:703-8. [NCBI PubMed Entry] [IF 11.6]

5. Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, Squire SE, Potter AC, Baker E, Clement S, Sewry CA, Fabian V, Crawford K, Lessard JL, Griffiths LM, Papadimitriou JM, Shen Y, Morahan G, Bakker AJ, Davies KE, Laing NG. (2009). Rescue of skeletal muscle {alpha}-actin-null mice by cardiac (fetal) {alpha}-actin. The Journal of cell biology 185:903-915. [NCBI PubMed Entry] [IF 9.6]

6. Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. (2013). Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American Journal of Human Genetics 93(1):6-18. [NCBI PubMed Entry] [IF 11.2]

7. Garg A, O’Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN. (2014). KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest, 124: 3529-39 [NCBI PubMed entry]

8. Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola AM, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. (2015). Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita. Am J Hum Genet 96(6): 955-961. [NCBI PubMed Entry] [IF 10.9]

9. Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith III JE, Ware JS, Yau KS, Swanson LC, Whiffin N, // Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, // Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bonnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol, 83: 1105-24. [NCBI PubMed entry]

10. Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur G, Oshlack A. (2018). STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome biology, 19: 121. [NCBI PubMed entry]

11. Ong, R, Howting D, Rea A, Christian H, Charman P, Molster C, Ravenscroft G, Laing NG. (2018). Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening. J Med Genet 55(11): 744-752. [NCBI Pubmed entry] [IF 5.7]

12. Delatycki, MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing NG, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J. (2020). International perspectives on the implementation of reproductive carrier screening. Prenat Diagn, 40: 301-10. [NCBI PubMed entry]

13. McNamara, EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinos T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, and Nowak KJ. (2020). Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease. Hum Mol Genet, 29: 20-30.[NCBI PubMed entry]

14. 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. (2020). Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain, 143: 480-90. [NCBI PubMed entry]

15. Kirk, EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor DJ, Bakshi M, Chung CWT, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajagopalan S, Ravine A, Wilson M, Caruana J, Casella R, Davis M, Edwards S, Archibald A, McGaughran J, Newson AJ, Laing NG, Delatycki MB. (2021). Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”). Eur J Hum Genet, 29: 79-87. [NCBI PubMed entry]

16. Timberlake, AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L, Genomics University of Washington Center for Mendelian, Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. (2021). Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun, 12: 4680. [NCBI PubMed entry]

17. Pellerin, D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Lariviere R, Genis D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schule R, Schols L, La Piana R, Synofzik M, Zuchner S, Brais B. (2023). Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med, 388: 128-41. [NCBI PubMed entry]