Personal profile
Biography
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 recent years, Professor Laing has moved the focus of his research to prevention genetics through three research themes:
1) Reproductive carrier screening
2) Development of improved diagnostics
3) Development of treatments for genetic muscle diseases.
In 2015 Professor Laing was elected a Fellow of the Australian Academy of Health and Medical Sciences and was appointed an Officer of the Order of Australia in the General Division (AO).
From 2018 to 2025 I was one of the three co-Leads of Mackenzie's Mission, the Australian Reproductive Carrier Screening Project. This was a $20m Medical Research Future Fund, Genomics Health Futures Mission Grant to research how to make expanded reproductive genetic carrier screenning to all geographic areas of Australia. In total, the project screened more than 9,000 couples for ~1,300 genes associated with ~750 severe recessive genetic diseases. The project identified just under 1:50 of the >9,000 couples with the high (1:4) chance with every pregnancy of having a child affected by one of the severe recessive genetic diseases screened for. The results of the project were published in the New England Journal of Medicine in November 2024 (Kirk, E.P. et al. Nationwide, Couple-Based Genetic Carrier Screening. N Engl J Med 391, 1877-1889 (2024)).
Education/Academic qualification
Fellow of the Australian Academy of Health and Medical Sciences (FAHMS)
Award Date: 6 Oct 2015
Fellow of the Human Genetics Society of Australasia (FHGSA) (Molecular Genetics)
Award Date: 6 Aug 2002
Physiology, PhD, Muscle activity as a factor controlling motor neuron number in the chicken embryo, University of Edinburgh
Award Date: 23 Dec 1979
Pharmacology, BSc Hons (First Class), University of Edinburgh
Award Date: 13 Jul 1976
Research expertise keywords
- Neurogenetics
- Neuromuscular diseases
- Molecular genetics
- Gene mapping
- Gene discovery
- Genetic therapy
- carrier screening
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Research output
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Relationships Between Nerve Ultrasound Findings and Clinical, Genetic, Laboratory and Electrophysiological Findings in Patients With Chronic Idiopathic Axonal Polyneuropathy
Pelosi, L., Garvey, A., Melville, I. Z., Scriba, C., Yong, V., Rodrigues, M., Kao, J., Glenn, M. D., Laing, N., Ravenscroft, G., Taylor, R. L. & Roxburgh, R. H., Feb 2026, In: Muscle and Nerve. 73, 2, p. 340-345 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy
Llansó, L., Ravenscroft, G., Aceituno, C., Gutiérrez, A., Parmar, J., Gallano, P., Caballero-Ávila, M., Carbayo, Á., Vesperinas, A., Collet, R., Blanco, R., Laing, N., Hove-Madsen, L., Gallardo, E. & Olivé, M., Feb 2025, In: Neuropathology and Applied Neurobiology. 51, 1, 14 p., e70000.Research output: Contribution to journal › Article › peer-review
3 Link opens in a new tab Citations (Web of Science) -
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Dominik, N., Efthymiou, S., Record, C. J., Miao, X., Lin, R. Q., Parmar, J. M., Scardamaglia, A., Maroofian, R., Lowe, S. A., Aughey, G. N., Wilson, A. D., Curro, R., Schnekenberg, R. P., Alavi, S., Leclaire, L., He, Y., Zhelcheska, K., Bellaïche, Y., Gaugué, I. & Skorupinska, M. & 61 others, , 1 Dec 2025, In: Journal of Clinical Investigation. 135, 23, p. 1-20 20 p., e184474.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Citation (Web of Science) -
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Titin Research Consortium, Coppens, S., Deconinck, N., Sullivan, P., Smolnikov, A., Clayton, J. S., Griffin, K. R., Jones, K. J., Vilain, C. N., Kadhim, H., Bryen, S. J., Faiz, F., Waddell, L. B., Evesson, F. J., Bakshi, M., Pinner, J. R., Charlton, A., Brammah, S., Graf, N. S. & Krivanek, M. & 52 others, , Apr 2025, In: Annals of Neurology. 97, 4, p. 611-628 18 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Citations (Scopus) -
Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions
Freeman, L., Archibald, A. D., Dive, L., Delatycki, M. B., Kirk, E. P., Laing, N. & Newson, A. J., Mar 2025, In: European Journal of Human Genetics. 33, 2, p. 194-198 5 p., 146.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Citations (Scopus)
Datasets
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Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Creator), Gayevskiy, V. (Creator), Davis, R. L. (Creator), Wong, M. (Creator), Mayoh, C. (Creator), Mallawaarachchi, A. (Creator), Hort, Y. (Creator), McCabe, M. J. (Creator), Beecroft, S. (Creator), Jackson, M. R. (Creator), Arts, P. (Creator), Dubowsky, A. (Creator), Laing, N. (Creator), Dinger, M. E. (Creator), Scott, H. S. (Creator), Oates, E. (Creator), Pinese, M. (Creator) & Cowley, M. J. (Creator), Figshare, 17 May 2023
DOI: 10.6084/m9.figshare.22914479.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Introme_accurately_predicts_the_impact_of_coding_and_noncoding_variants_on_gene_splicing_with_clinical_applications/22914479/1
Dataset
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Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Creator), Gayevskiy, V. (Creator), Davis, R. L. (Creator), Wong, M. (Creator), Mayoh, C. (Creator), Mallawaarachchi, A. (Creator), Hort, Y. (Creator), McCabe, M. J. (Creator), Beecroft, S. (Creator), Jackson, M. R. (Creator), Arts, P. (Creator), Dubowsky, A. (Creator), Laing, N. (Creator), Dinger, M. E. (Creator), Scott, H. S. (Creator), Oates, E. (Creator), Pinese, M. (Creator) & Cowley, M. J. (Creator), Figshare, 17 May 2023
DOI: 10.6084/m9.figshare.22914479, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Introme_accurately_predicts_the_impact_of_coding_and_noncoding_variants_on_gene_splicing_with_clinical_applications/22914479
Dataset
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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Dashnow, H. (Contributor), Pedersen, B. S. (Contributor), Hiatt, L. (Contributor), Brown, J. (Contributor), Beecroft, S. J. (Contributor), Ravenscroft, G. (Contributor), LaCroix, A. J. (Contributor), Lamont, P. (Contributor), Roxburgh, R. H. (Contributor), Rodrigues, M. J. (Contributor), Davis, M. (Contributor), Mefford, H. C. (Contributor), Laing, N. G. (Contributor) & Quinlan, A. R. (Contributor), Figshare, 13 Aug 2024
DOI: 10.6084/m9.figshare.c.6575329
Dataset
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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Sullivan, P. J. (Contributor), Gayevskiy, V. (Contributor), Davis, R. L. (Contributor), Wong, M. (Contributor), Mayoh, C. (Contributor), Mallawaarachchi, A. (Contributor), Hort, Y. (Contributor), McCabe, M. J. (Contributor), Beecroft, S. (Contributor), Jackson, M. R. (Contributor), Arts, P. (Contributor), Dubowsky, A. (Contributor), Laing, N. (Contributor), Dinger, M. E. (Contributor), Scott, H. S. (Contributor), Oates, E. (Contributor), Pinese, M. (Contributor) & Cowley, M. J. (Contributor), Figshare, 18 May 2023
DOI: 10.6084/m9.figshare.c.6652181
Dataset
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OurDNA dataset
Richards, C. (Creator), de Lange, K. (Creator), Piscionere, J. (Creator), Bobowik, K. S. (Creator), Bodemer, D. (Creator), Cantsilieris, S. (Creator), Coates, D. (Creator), Croy, S. (Creator), Dang, Z. (Creator), Harper, M. (Creator), Madala, B. S. (Creator), Miniter, A. (Creator), Schmidt, J. (Creator), Seesink, L. (Creator), Shouly, R. (Creator), Silk, M. (Creator), Stuckey, A. (Creator), Terrill, B. (Creator), Uren, C. (Creator), Vanevski, M. (Creator), Ambegaokar, M. (Creator), Bakiris, V. (Creator), Crawford, L. (Creator), Esposito, D. C. (Creator), Franklin, M. K. (Creator), Gruenschloss, L. (Creator), Sansom, S. L. (Creator), Hyben, M. (Creator), Krishnakumar, C. (Creator), Morrison, C. (Creator), Nicholas, H. R. (Creator), Penaia, S. (Creator), Pinho, A. (Creator), Rius, R. (Creator), Savelyev, V. (Creator), Simons, C. (Creator), Stewart, N. P. (Creator), Tsimiklis, H. (Creator), Wang, Y. (Creator), Wedd, L. (Creator), Yeates, L. M. (Creator), Alansari, B. (Creator), Babate, F. J. G. (Creator), Bartolome, C. (Creator), Cho, J. (Creator), Cichello, M. A. (Creator), Coombe, S. A. (Creator), Kalbesa, A. A. (Creator), Kerr, D. (Creator), Liston, M. G. (Creator), Mustapha, N. (Creator), Nabi, S. (Creator), Pham, A. L. (Creator), Raya Martinez, N. (Creator), Santiago, L. M. (Creator), Tran, V. B. B. (Creator), Velasquez, G. T. (Creator), Boughtwood, T. F. (Creator), Geronimo, M. A. (Creator), Ingles, J. (Creator), Kanagalingam, S. (Creator), Marning, J. (Creator), Southey, M. C. (Creator), Vears, D. F. (Creator), Young, M.-A. (Creator), Delatycki, M. (Creator), Figtree, G. (Creator), Hewitt, A. (Creator), Kirk, E. P. (Creator), Laing, N. G. (Creator), MacArthur, D. G. (Creator), Arkell, K. (Contributor), Baker, A. (Creator), Best, S. (Contributor), Brown, A. D. (Contributor), Bryen, S. (Contributor), Deveson, I. W. (Contributor), Fehlberg, Z. (Contributor), Formaini, E. (Creator), Hermes, A. (Contributor), Howlett, V. (Contributor), Hreszczuk, A. (Contributor), Irving, D. (Contributor), Kassahn, K. S. (Contributor), Knight, E. (Contributor), Kummerfeld, S. (Contributor), Lacaze, P. (Contributor), Marshall, J. (Contributor), Menzies, I. J. (Contributor), Mitchell, L. A. (Contributor), Nguyen, J. (Contributor), Pankhania, Y. (Contributor), Pavlic, D. (Contributor), Powell, J. E. (Contributor), Reedy, P. (Contributor), Rehm, H. L. (Contributor), Richards, E. (Other), Shah, S. (Contributor), Talkowski, M. E. (Contributor), Tamasese, N. (Contributor), Thibault, L. (Contributor), Thorpe, R. (Contributor), Wallace, D. (Creator), Welland, M. (Creator), Yan, S. (Contributor) & Yengo, L. (Contributor), Zenodo, 14 May 2025
Dataset
Projects
- 70 Finished
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Embedding Genomics in Primary Care: Using Implementation Science to Design a Robust National Approach
Braithwaite, J. (Investigator 01), Long, J. (Investigator 02), Best, S. (Investigator 03), Willcock, S. (Investigator 04), Archibald, A. (Investigator 05), Cutler, H. (Investigator 06), Ferrie, M. (Investigator 07), Freeman, L. (Investigator 08), Dive, L. (Investigator 09), Trainer, A. (Investigator 10), McLaren, B. (Investigator 11), Newson, A. (Investigator 12), Delatycki, M. (Investigator 13), Kirk, E. (Investigator 14) & Laing, N. (Investigator 15)
MRFF Medical Research Future Fund
1/06/23 → 31/05/26
Project: Research
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REA Laing
Laing, N. (Investigator 01)
Department of Health (Western Australia)
27/06/22 → 26/06/24
Project: Research
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Bionano Optical Genomic Mapping – powering human genetics research and diagnostics.
Ravenscroft, G. (Investigator 01), Laing, N. (Investigator 02), Davis, M. (Investigator 03), Azmanov, D. (Investigator 04) & Ly, T. (Investigator 05)
FSHD Global Research Foundation
11/04/22 → 10/04/23
Project: Research
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NHMRC Equipment Grant NanoAssemblr Ignite
Nilsson, J. (Investigator 01), Hamzah, J. (Investigator 02), Leedman, P. (Investigator 03), Fox, A. (Investigator 04), Bond, C. (Investigator 05), Choi, Y. S. (Investigator 06), Laing, N. (Investigator 07), Ravenscroft, G. (Investigator 08), Clemons, T. (Investigator 09) & Evans, C. (Investigator 10)
NHMRC National Health and Medical Research Council
14/02/22 → 10/02/23
Project: Research
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NHMRC Equipment Grant qPCR
Pflueger, C. (Investigator 01), Lister, R. (Investigator 02), Laing, N. (Investigator 03), Ravenscroft, G. (Investigator 04), Morahan, G. (Investigator 05), Leedman, P. (Investigator 06), Blancafort, P. (Investigator 07), Forrest, A. (Investigator 08), Nilsson, J. (Investigator 09), Waryah, C. (Investigator 10), Chee, J. (Investigator 11), Nowak, A. (Investigator 12) & Gaudieri, S. (Investigator 13)
NHMRC National Health and Medical Research Council
14/02/22 → 10/02/23
Project: Research