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Role Deputy Dir & Head Office of Research
Research area Genomic Medicine
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council Program focusing on the molecular genetics of gonad development and its impact on patients with differences of sex development (DSD). In this capacity he has forged formal linkages with both national and international clinicians, discovered new genes, developed a rapid genomic sequencing panel assay (now in clinical use) that has dramatically improved rates of diagnosis. Recently, he has differentiated human iPS (stem cells) into testis cell lineages for functional analysis of DSD patient variants.

As a Board Director of the Victorian Clinical Genetics Service he has had oversight for implementing a range of genomics applications into clinical service provision, in particular, clinically accredited exomes and whole genomes. He is one of the leaders of the Melbourne Genomics Health Alliance and a lead architect of the Australian Genomics Health Alliance both of which aim to implement genomics into the healthcare system to improve patient outcomes. He has received numerous national and international awards and in 2015 was elected a Fellow of the Australian Academy of Health and Medical Sciences.
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council...
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council Program focusing on the molecular genetics of gonad development and its impact on patients with differences of sex development (DSD). In this capacity he has forged formal linkages with both national and international clinicians, discovered new genes, developed a rapid genomic sequencing panel assay (now in clinical use) that has dramatically improved rates of diagnosis. Recently, he has differentiated human iPS (stem cells) into testis cell lineages for functional analysis of DSD patient variants.

As a Board Director of the Victorian Clinical Genetics Service he has had oversight for implementing a range of genomics applications into clinical service provision, in particular, clinically accredited exomes and whole genomes. He is one of the leaders of the Melbourne Genomics Health Alliance and a lead architect of the Australian Genomics Health Alliance both of which aim to implement genomics into the healthcare system to improve patient outcomes. He has received numerous national and international awards and in 2015 was elected a Fellow of the Australian Academy of Health and Medical Sciences.

Top Publications

  • White, S, Ohnesorg, T, Notini, A, Roeszler, K, Hewitt, J, Daggag, H, Smith, C, Turbitt, E, Gustin, S, van den Bergen, J, et al. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.. PLoS One 6(3) : e17793 2011
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  • Sutton, E, Hughes, J, White, S, Sekido, R, Tan, J, Arboleda, V, Rogers, N, Knower, K, Rowley, L, Eyre, H, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans.. J Clin Invest 121(1) : 328 -341 2011
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  • Smith, CA, Roeszler, KN, Ohnesorg, T, Cummins, DM, Farlie, PG, Doran, TJ, Sinclair, AH. The avian Z-linked gene DMRT1 is required for male sex determination in the chicken.. Nature 461(7261) : 267 -271 2009
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  • Western, PS, Miles, DC, van den Bergen, JA, Burton, M, Sinclair, AH. Dynamic regulation of mitotic arrest in fetal male germ cells.. Stem Cells 26(2) : 339 -347 2008
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  • Smith, CA, McClive, PJ, Western, PS, Reed, KJ, Sinclair, AH. Conservation of a sex-determining gene.. Nature 402(6762) : 601 -602 1999
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