• The University of Western Australia (M503), 35 Stirling Highway,

    6009 Perth


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Personal profile

Roles and responsibilities

Prof Scott Wilson is a research scientist with more than 20 years of experience in endocrinology and genetics including clinical and basic scientific research. The major focus of current research is the genetic basis of common complex disease, including osteoporosis and bone disease, neuropsychological disorders (autism spectrum disorder), reproductive endocrinology (polycystic ovary disease) and thyroid function and disease.

Prof Wilson heads the laboratory at the Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital, Western Australia (1 of the 3 major Teaching Hospitals in WA) and continues to work actively in the Molecular Genetics laboratory. His current appointments include: Principal Investigator/Senior Medical Scientist in Charge (Head of Laboratory), Endocrinology & Diabetes, Sir Charles Gairdner Hospital, 2017 – present; Senior Lecturer (Visiting), King’s College London, UK, 2018 – present; Adjunct Professor, The University of Western Australia, 2007 – present.

Prior to his current appointments, Prof Wilson was a Principal Investigator/Scientific Officer and led the Molecular Endocrine Genetics laboratory in the Department of Endocrinology & Diabetes, Sir Charles Gairdner Hospital from 2002-2016; he returned to Australia from Cambridge, UK to take up that role early in 2002. Prior to that he was Head of the Clinical Division of Sequenom-Gemini Ltd in Cambridge, UK, where he managed the function of five clinical service departments. Earlier, as a Senior Research Fellow at Gemini Genomics PLC in Cambridge UK, he headed a multi-centre international collaborative study, completing two whole-genome screens and downstream positional cloning of complex disease genes. He played a major role in the industrialisation of protocols for GeneChips (Affymetrix) in the year 2000 including pilot genome-wide association studies, which were a foundation of the modern GWAS. Prof Wilson also worked with scientists at Celera Genomics in 2001 on a collaborative project that reached a successful gene discovery endpoint in December of that year. Before that time, Prof Wilson worked at University of Western Australia as a Research Officer and gained training in genetic analysis at the Garvan Institute.



The overarching goal of our research program is to identify and elucidate the role of key genes and associated transcriptional and epigenetic control mechanisms that affect the development of complex diseases. The specific aim is to contribute information that will provide a better understanding of these diseases and to develop tools of potential use in the diagnosis and/or treatment of these diseases. To this end, we are following comprehensive approaches using techniques such as genome-wide screening of family based cohorts, gene association studies in human population samples and targeted enrichment bisulfite sequencing of disease discordant monozygotic twins. Molecular based experimental approaches, which also form part of the program, employ model cell systems, CRISPR-Cas9 gene editing and RNA seq to study genome wide expression and the response of genes to pharmacological agents.

Contribution to field of research: Summary of publications in leading jornals: Nature (3), Lancet (1), Nat Genet (3), Nat Commun (6), Am J Hum Genet (7), PLoS Genet (6), BMC Med Genet (3), Hum Mol Genet (2), Eur J Hum Genet (2), J Bone Miner Res (the premier journal in the bone field; 7), J Clin Endocrinol Metab (the premier journal in the endocrine field; 7); 36 publications since 2015 (inc. 12 consortium). Major publications include:

- Characterisation of Genetic Regulatory Effects for Osteoporosis Risk Variants in Human Osteoclasts. Mullin BH, et al. Genome Biol. 2020;21(1):80.

- Whole-genome Sequencing Identifies EN1 as a Determinant of Bone Density and Fracture. Zheng HF, et al. Nature. 2015;526(7571):112-7.

- Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia. Mullin BH et al. J Endocr Soc. 2022 Feb 18;6(5):bvac025.

- Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. Tachmazidou I, et al. Am J Hum Genet. 2017;100(6):865-884.

- The UK10K Project Identifies Rare Variants in Health and Disease. UK10K Consortium (inc. Wilson SG). Nature. 2015;526(7571):82-90.

- Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L. Lafontaine N, et al. J Clin Endocrinol Metab. 2021;106(5):e2191-e2202.

- Functional Analysis of Calcium-Sensing Receptor Variants Identified in Families Provisionally Diagnosed with Familial Hypocalciuric Hypercalcaemia. Magno AL, et al. Calcif Tissue Int. 2020;107(3):230-239.

- Decreased Immunoglobulin G Core Fucosylation, a Player in Antibody-dependent Cell-mediated Cytotoxicity, is Associated with Autoimmune Thyroid Diseases. Martin TC, et al. Mol Cell Proteomics. 2020;19(5):774-792.

- Large-Scale Genome-Wide Meta-analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria. Day F, et al. PLoS Genet. 2018;14(12):e1007813.

- Whole-Genome Sequence-Based Analysis of Thyroid Function. Taylor PN, et al. Nat Commun. 2015;6:5681.

Patents: Prof Wilson has filed 8 National and International patents.

Collaborations: Collaborates in research with international leaders on bone disorders and phenotypes, endocrine phenotypes, thyroid disease and phenotypes and neuropsychology phenotypes (autism), including Brisbane Longitudinal Twins Study - QIMR Berghofer Medical Research Institute (neuropsychology/endocrine), International GEFOS Consortium (osteoporosis/bone disease), UK10K Consortium, Prof Nicole Soranzo - Wellcome Sanger Institute (UK), Prof Brent Richards - McGill University (Canada), International PCOS Consortium, International ThyroidOmics Consortium, Prof Elin Grundberg - Children's Mercy Kansas City (USA), Dr John Perry - University of Cambridge (UK) (reproductive endocrinology/PCOS), Dr Nicholas Timpson -University of Bristol (UK), Raine Study (neuropsychology/endocrine), The Pawsey Supercomputing Centre (high-throughput analysis of whole genome sequence), among others.

Professional involvement: Prof Wilson is a member of ASHG, ASBMR, ANZBMS, AIMS, ACPSEM. He served on the Scientific Program Organising Committee for the Australian and New Zealand Bone and Mineral Society and was on the Scientific Program Organising Committee for the International Bone and Hormone Meeting (Hamilton Island). Prof Wilson has also served on Local Organising Committees for other international (Perth International Bone & Hormone Conference) and national meetings (Endocrine Society of Australia; New Zealand Bone and Mineral Society; Australasian Human Gene Mapping).

International standing: Participates actively in numerous international conferences and consortia centred on research into endocrine traits and disease. Recent research presented at: the American Society for Human Genetics, American Society for Bone and Mineral Research Epigenomics of Common Disease Conference (UK). Chaired the Genetics and Novel Technology session at the 1st Australia-China Conference on Science, Technology and Innovation.

Supervision and mentoring: 25 past research students. Prof Wilson has extensive experience supervising and mentoring postgraduate students; currently supervising 2 PhD students.

Editorial/Peer review responsibilities: Performs peer reviews for leading international journals, including Nat Genet, Ann Hum Genet, PLoS Genet, Am J Hum Genet, Hum Mol Genet, Ann Hum Biol, BMC Bioinformatics, Twin Res Hum Genet.

Contributions to NHMRC: Has served on the NHMRC Grant Review Panel (Genetics) on 3 occasions and provides reviews on grant applications for the RGC-Hong Kong, MRC-UK, Arthritis UK, CDRF-UK, ISF- Israel and NHMRC.

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being


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Collaborations and top research areas from the last five years

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  • Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

    Sterenborg, R. B. T. M., Steinbrenner, I., Li, Y., Bujnis, M. N., Naito, T., Marouli, E., Galesloot, T. E., Babajide, O., Andreasen, L., Astrup, A., Åsvold, B. O., Bandinelli, S., Beekman, M., Beilby, J. P., Bork-Jensen, J., Boutin, T., Brody, J. A., Brown, S. J., Brumpton, B., Campbell, P. J., & 121 othersCappola, A. R., Ceresini, G., Chaker, L., Chasman, D. I., Concas, M. P., Coutinho de Almeida, R., Cross, S. M., Cucca, F., Deary, I. J., Kjaergaard, A. D., Echouffo Tcheugui, J. B., Ellervik, C., Eriksson, J. G., Ferrucci, L., Freudenberg, J., Fuchsberger, C., Gieger, C., Giulianini, F., Gögele, M., Graham, S. E., Grarup, N., Gunjača, I., Hansen, T., Harding, B. N., Harris, S. E., Haunsø, S., Hayward, C., Hui, J., Ittermann, T., Jukema, J. W., Kajantie, E., Kanters, J. K., Kårhus, L. L., Kiemeney, L. A. L. M., Kloppenburg, M., Kühnel, B., Lahti, J., Langenberg, C., Lapauw, B., Leese, G., Li, S., Liewald, D. C. M., Linneberg, A., Lominchar, J. V. T., Luan, J., Martin, N. G., Matana, A., Meima, M. E., Meitinger, T., Meulenbelt, I., Mitchell, B. D., Møllehave, L. T., Mora, S., Naitza, S., Nauck, M., Netea-Maier, R. T., Noordam, R., Nursyifa, C., Okada, Y., Onano, S., Papadopoulou, A., Palmer, C. N. A., Pattaro, C., Pedersen, O., Peters, A., Pietzner, M., Polašek, O., Pramstaller, P. P., Psaty, B. M., Punda, A., Ray, D., Redmond, P., Richards, J. B., Ridker, P. M., Russ, T. C., Ryan, K. A., Olesen, M. S., Schultheiss, U. T., Selvin, E., Siddiqui, M. K., Sidore, C., Slagboom, P. E., Sørensen, T. I. A., Soto-Pedre, E., Spector, T. D., Spedicati, B., Srinivasan, S., Starr, J. M., Stott, D. J., Tanaka, T., Torlak, V., Trompet, S., Tuhkanen, J., Uitterlinden, A. G., van den Akker, E. B., van den Eynde, T., van der Klauw, M. M., van Heemst, D., Verroken, C., Visser, W. E., Vojinovic, D., Völzke, H., Waldenberger, M., Walsh, J. P., Wareham, N. J., Weiss, S., Willer, C. J., Wilson, S. G., Wolffenbuttel, B. H. R., Wouters, H. J. C. M., Wright, M. J., Yang, Q., Zemunik, T., Zhou, W., Zhu, G., Zöllner, S., Smit, J. W. A., Peeters, R. P., Köttgen, A., Teumer, A. & Medici, M., 30 Jan 2024, In: Nature Communications. 15, 1, 18 p., 888.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Age-dependent genetic regulation of osteoarthritis: independent effects of immune system genes

    Kenny, J., Mullin, B. H., Tomlinson, W., Robertson, B., Yuan, J., Chen, W., Zhao, J., Pavlos, N. J., Walsh, J. P., Wilson, S. G., Tickner, J., Morahan, G. & Xu, J., 1 Dec 2023, In: Arthritis Research and Therapy. 25, 1, 12 p., 232.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

    Medina-Gomez, C., Mullin, B. H., Chesi, A., Prijatelj, V., Kemp, J. P., Shochat-Carvalho, C., Trajanoska, K., Wang, C., Joro, R., Evans, T. E., Schraut, K. E., Li-Gao, R., Ahluwalia, T. S., Zillikens, M. C., Zhu, K., Mook-Kanamori, D. O., Evans, D. S., Nethander, M., Knol, M. J., Thorleifsson, G., & 38 othersProkic, I., Zemel, B., Broer, L., McGuigan, F. E., van Schoor, N. M., Reppe, S., Pawlak, M. A., Ralston, S. H., van der Velde, N., Lorentzon, M., Stefansson, K., Adams, H. H. H., Wilson, S. G., Ikram, M. A., Walsh, J. P., Lakka, T. A., Gautvik, K. M., Wilson, J. F., Orwoll, E. S., van Duijn, C. M., Bønnelykke, K., Uitterlinden, A. G., Styrkársdóttir, U., Akesson, K. E., Spector, T. D., Tobias, J. H., Ohlsson, C., Felix, J. F., Bisgaard, H., Grant, S. F. A., Richards, J. B., Evans, D. M., van der Eerden, B., van de Peppel, J., Ackert-Bicknell, C., Karasik, D., Kague, E. & Rivadeneira, F., 4 Jul 2023, (E-pub ahead of print) In: Communications Biology. 6, 1, 12 p., 691.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Citation (Scopus)
  • Cross-Trait Genetic Analyses Indicate Pleiotropy and Complex Causal Relationships between Headache and Thyroid Function Traits

    Tasnim, S., Wilson, S. G., Walsh, J. P. & Nyholt, D. R., Jan 2023, In: Genes. 14, 1, 21 p., 16.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants

    Stuckey, B. G. A., Jones, T. W., Ward, B. K. & Wilson, S. G., Jun 2023, In: Genes. 14, 6, 1204.

    Research output: Contribution to journalArticlepeer-review

    Open Access