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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

  • Thomson, E, Tran, M, Robevska, G, Ayers, K, van der Bergen, J, Gopalakrishnan Bhaskaran, P, Haan, E, Cereghini, S, Vash-Margita, A, Margetts, M, et al. Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.. Hum Mol Genet 32(6) : 1032 -1047 2023
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  • Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Gaff, CL, Goranitis, I, Spurdle, AB, Hansen, DP, Hofmann, O, Laing, N, et al. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.. Am J Hum Genet 110(3) : 419 -426 2023
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  • Croft, B, Bird, AD, Ono, M, Eggers, S, Bagheri-Fam, S, Ryan, JM, Reyes, AP, van den Bergen, J, Baxendale, A, Thompson, EM, et al. FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.. Clin Genet 103(3) : 277 -287 2023
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  • O'Connell, MA, Atlas, G, Ayers, K, Sinclair, A. Establishing a Molecular Genetic Diagnosis in Children with Differences of Sex Development: A Clinical Approach.. Horm Res Paediatr 96(2) : 128 -143 2023
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  • Robevska, G, Hanna, C, van den Bergen, J, Welch, J, Couper, J, Harris, S, Joshi, K, Brown, J, Sabin, M, Sinclair, A, et al. Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.. Sex Dev 17(1) : 8 -15 2023
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