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
Bowman-Smart, H, Savulescu, J, O’Connell, M, Sinclair, A.
World Athletics regulations unfairly affect female athletes with differences in sex development.
Journal of the Philosophy of Sport
ahead-of-print(ahead-of-print)
:
1 -25
2024
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Faradz, SM, Listyasari, N, Utari, A, Ariani, MD, Juniarto, AZ, Santosa, A, Ediati, A, Rinne, TK, Westra, D, Claahsen-van der Grinten, H, et al.
Lessons Learned from 17 Years of Multidisciplinary Care for DSD Patients at A Single Indonesian Center..
Sex Dev
2023
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Bakhshalizadeh, S, Hock, DH, Siddall, NA, Kline, BL, Sreenivasan, R, Bell, KM, Casagranda, F, Kamalanathan, S, Sahoo, J, Narayanan, N, et al.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency..
Hum Genet
142(7)
:
879 -907
2023
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Ayers, KL, Eggers, S, Rollo, BN, Smith, KR, Davidson, NM, Siddall, NA, Zhao, L, Bowles, J, Weiss, K, Zanni, G, et al.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects..
Nat Commun
14(1)
:
3566
2023
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Neyroud, AS, Rudinger-Thirion, J, Frugier, M, Riley, LG, Bidet, M, Akloul, L, Simpson, A, Gilot, D, Christodoulou, J, Ravel, C, et al.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss..
Eur J Hum Genet
31(4)
:
453 -460
2023
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