photo of Prof Andrew Sinclair

Prof Andrew Sinclair

Prof Andrew Sinclair

Details

Role Deputy Dir & Head Office of Research
Research area Genetics
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 disorders 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 disorders 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

  • Knarston, IM, Pachernegg, S, Robevska, G, Ghobrial, I, Er, PX, Georges, E, Takasato, M, Combes, AN, Jørgensen, A, Little, MH, et al. An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development. Stem Cell Reports 15(6) : 1377 -1391 2020
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  • Croft, B, Ohnesorg, T, Hewitt, J, Bowles, J, Quinn, A, Tan, J, Corbin, V, Pelosi, E, van den Bergen, J, Sreenivasan, R, et al. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications 9(1) : 5319 2018
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  • Eggers, S, Sadedin, S, van den Bergen, JA, Robevska, G, Ohnesorg, T, Hewitt, J, Lambeth, L, Bouty, A, Knarston, IM, Tan, TY, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biology 17(1) : 243 2016
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  • Eggers, S, Smith, KR, Bahlo, M, Looijenga, LH, Drop, SL, Juniarto, ZA, Harley, VR, Koopman, P, Faradz, SM, Sinclair, AH. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1. European Journal of Human Genetics 23(4) : 486 -493 2014
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  • 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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