Professor Vincent Harley leads the Sex Determination and Gonadal Development Research Group in the Centre for Endocrinology and Metabolism. He previously held positions in the UK (Imperial Cancer Research Fund Laboratories, London, and Department of Genetics at Cambridge University) and at the Howard Florey Institute in Melbourne, before joining the Prince Henry’s Institute, now Hudson Institute of Medical Research, in 2000.

Prof Harley’s research focuses on transcription factors and their role in health and disease, with a particular focus on the sex determining gene, SRY, and its contribution to sex (male) bias in certain neurological disorders, such as Parkinson’s disease, ADHD and schizophrenia. A second research aim is to establish the biological basis for gender identity through genetic analyses of transgender individuals.

His expertise lies in molecular genetics, sex differentiation, organ development and gene regulation.

Selected publications

• Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley V (2019) Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson’s disease. Proceedings of the National Academy of Sciences of USA 116(33):16577-16582

• León NY, Reyes AP, Harley VR (2019) A clinical algorithm to diagnose differences of sex development. The Lancet Diabetes & Endocrinology 7(7):560-574

• Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A (2018) Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications 9(1):5319

• Bowles J, Feng C-W, Ineson J, Miles K, Spiller CA, Harley VR, Sinclair AH, Koopman P (2018) Retinoic acid antagonizes testis development in mice. Cell Reports 24(5):1330-1341

• Foreman M, Hare L, York K, Balakrishnan K, Harte F, Erasmus J, Vilain E, Harley V (2018) A genetic link between gender incongruence and sex hormone signalling. The Journal of Clinical Endocrinology & Metabolism 104(2):390-396

• Rahmoun M, Lavery R, Laurent-Chabalier S, Bellora N, Philip G, Rossitto M, Symon A, Pailhoux E, Cammas F, Chung J, Murphy M, Bardwell V, Zarkower D, Boizet-Bonhoure B, Clair P, Harley V, Poulat F (2017) In mammalian foetal testes, SOX9 regulates transcription and splicing of its target genes by binding to genomic regions with conserved signatures. Nucleic Acids Research 45(12):7191-7211

• Ono M, Harley V (2013) Disorders of sex development: new genes, new concepts. Nature Reviews Endocrinology 9(2):79-91

• Bagheri-Fam S, Argentaro A, Svingen T, Combes A, Sinclair A, Koopman P, Harley VR (2011) Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Human Molecular Genetics 20:2213-2224