Professor David Sillence AM

Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3215
F: +61 2 9845 3204

Research interests

Professor Sillence is the foundation chair of Medical Genetics in the University of Sydney. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978.

He serves on the education committee of the Human Genetics Society of Australasia, the International Nomenclature Committee for Constitutional Disorders of the Skeletal, the International Mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP.

David Sillence’s current research interests include a) Genetics and treatment of osteopenic and other metabolic bone disorders of childhood, b) Characterization of the molecular genetics and pathogenesis of specific skeletal birth defects in mouse and man, c) Consanguinity and paediatric morbidity/population genetics of consanguinity in Middle Eastern Populations, d) Evaluation of Innovative Genetic Therapies. These studies are being undertaken with a range of collaborators from within the Children’s Hospital at Westmead, the research institutes in Sydney and with overseas geneticists. Our studies in the genetics and treatment of osteopenic and other metabolic bone disorders has lead to the development of i) Normal range of bone density and skeletal metabolise in children, ii) a delineation of the natural history of various skeletal disorders collectively known as Osteogenesis Imperfecta and iii) the definition of the specific conditions for treatment of these disorders with Bisphosphonates.

Professor Sillence has also worked closely with the Victor Chang Developmental Biology Unit at the Garvan Institute in Sydney in developing an approach to studying congenital anomalies of spine development.

Professor Sillence has over considerable period developed studies related to consanguinity and paediatric morbidity. Future research involves a detailed analysis of the disorders in specific populations. This will allow us to develop population screening technologies and so be able to offer couples accurate population specific genetic testing in the future. Our approaches include Autozygosity Mapping to characterize rare autosomal recessive disorders in the client populations. The collaborative group is developing a confidential register of information about rare disorders in these population.

David Sillence also formed the centre for the evaluation of Innovative Genetic Therapies at the Westmead Hospital and the Children’s Hospital at Westmead to evaluate innovative therapies such as Enzyme Replacement and Substrate Reduction Therapies in the treatment of Lysosomal Storage Disorders in Adults and Children.


2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Van Dijk, F., Sillence, D. (2014), Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics. Part A. 164(6), 1470-1481. [Abstract]
  • Leroy, J., Sillence, D., Wood, T., Barnes, J., Lebel, R., Friez, M., Stevenson, R., Steet, R., Cathey, S. (2014), A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. European Journal of Human Genetics. 22(5), 594-601. [Abstract]
  • Lazarus, S., McInerney-Leo, A., McKenzie, F., Baynam, G., Broley, S., Cavan, B., Munns, C., Pruijs, J., Sillence, D., Terhal, P., Pryce, K., Brown, M., Zankl, A., Thomas, G., Duncan, E. (2014), The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders. 15, 107. [Abstract]


  • Boyd, A., Lo, Q., Devine, K., Tchan, M., Sillence, D., Sadick, N., Richards, D., Thomas, L. (2013), Left atrial enlargement and reduced atrial compliance occurs early in fabry cardiomyopathy. Journal of the American Society of Echocardiography. 26(12), 1415-1423. [Abstract]
  • Alcausin, M., Briody, J., Pacey, V., Ault, J., McQuade, M., Bridge, C., Engelbert, R., Sillence, D., Munns, C. (2013), Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age. Hormone Research in Paediatrics. 79(6), 333-340. [Abstract]
  • Ireland, P., Ware, R., Donaghey, S., McGill, J., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2013), The effect of height, weight and head circumference on gross motor development in achondroplasia. Journal of Paediatrics and Child Health. 49(2), E122-127. [Abstract]
  • Sillence, D. (2013), Genetics and Adolescence. In: A Clinical Handbook in Adolescent Medicine. (pp.635-644).United States: World Scientific Publishing.


  • Geevasinga, N., Tchan, M., Sillence, D., Vucic, S. (2012), Upregulation of inward rectifying currents and Fabry disease neuropathy. Journal of the Peripheral Nervous System. 17(4), 399-406. [Abstract]
  • Nizon, M., Alanay, Y., Tuysuz, B., Kiper, P., Geneviève, D., Sillence, D., Huber, C., Munnich, A., Cormier-Daire, V. (2012), IMPAD1 mutations in two Catel-Manzke like patients. American Journal of Medical Genetics. Part A. 158A(9), 2183-2187. [Abstract]
  • Wu, K., Kohn, M., Turner, A., Sillence, D. (2012), A common presentation of a rare genetic disorder clinically mimicking primary myopathy. Adolescent Medicine: State of the Art Reviews. 23(2), 393-403. [Abstract]
  • Ireland, P., Donaghey, S., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2012), Development in children with achondroplasia: a prospective clinical cohort study. Developmental Medicine and Child Neurology. 54(6), 532-537. [Abstract]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., Ware, R., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., McGill, J. (2012), Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years. Journal of Paediatrics and Child Health. 48(5), 443-449. [Abstract]
  • Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B., Alanay, Y., Albrecht, B., Al-Gazali, L., Basaran, S., Clayton-Smith, J., Désir, J., Gill, H., Greally, M., Koparir, E., van Maarle, M., Mackay, S., Mortier, G., Morton, J., Sillence, D., Vilain, C., Young, I., Zerres, K., Le Merrer, M., Munnich, A., Le Goff, C., Rossi, A., Cormier-Daire, V. (2012), Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Human Mutation. 33(8), 1261-1266. [Abstract]
  • Cheung, R., Sillence, D., Tchan, M. (2012), Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In: JIMD Reports - Case and Research Reports, 2012/3. (pp.101-105).Germany: Springer.
  • Sillence, D., Waters, K., Donaldson, S., Shaw, P., Ellaway, C. (2012), Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. In: JIMD Reports - Case and Research Reports, 2011/2. (pp.103-106).Germany: Springer.


  • Gray, P., Sillence, D., Kakakios, A. (2011), Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. International journal of immunogenetics. 38(6), 501-5. [Abstract]
  • Ireland, P., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2011), Functional performance in young Australian children with achondroplasia. Developmental medicine and child neurology. 53(10), 944-50. [Abstract]
  • Warman, M., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., Rimoin, D., Robertson, S., Savarirayan, R., Sillence, D., Spranger, J., Unger, S., Zabel, B., Superti-Furga, A. (2011), Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics. Part A. 155A(5), 943-968. [Abstract]
  • Tchan, M., Sillence, D. (2011), Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal. 41(5), 422-426. [Abstract]
  • Tchan, M., Graf, N., Sillence, D. (2011), Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie). Journal of Inherited Metabolic Disease. 34(2), 547-548. [Abstract]
  • Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamandé, S., Savarirayan, R. (2011), TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases. 6, 37. [Abstract]
  • Tchan, M., Devine, K., Sillence, D. (2011), Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports. 1(1), 57-64.


  • Unger, S., Lausch, E., Rossi, A., Mégarbané, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I., Lam, S., Hoefele, J., Rost, I., Wakeling, E., Mangold, E., Godbole, K., Vatanavicharn, N., Franco, L., Chandler, K., Hollander, S., Velten, T., Reicherter, K., Spranger, J., Robertson, S., Bonafé, L., Zabel, B., Superti-Furga, A. (2010), Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. American Journal of Medical Genetics. Part A. 152A(10), 2543-2549. [Abstract]
  • Sparrow, D., Sillence, D., Wouters, M., Turnpenny, P., Dunwoodie, S. (2010), Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. European journal of human genetics : EJHG. 18(6), 674-9. [Abstract]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Alcausin, M., Cathey, S., Sillence, D. (2010), The natural history and osteodystrophy of mucolipidosis types II and III. Journal of paediatrics and child health. 46(6), 316-22. [Abstract]
  • Balasubramaniam, S., Bowling, F., Carpenter, K., Earl, J., Chaitow, J., Pitt, J., Mornet, E., Sillence, D., Ellaway, C. (2010), Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. Journal of Inherited Metabolic Disease. 0(0), 0. [Abstract]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S. (2010), Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics. 31(1), 41-47. [Abstract]


  • Tinkle, B., Bird, H., Grahame, R., Lavallee, M., Levy, H., Sillence, D. (2009), The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). American Journal of Medical Genetics. Part A. 149A(11), 2368-2370. [Abstract]
  • Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S., Li, Y., Shboul, M., Tham, P., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O'Connor, B., Schmidt-von Kegler, M., Merriman, B., Nelson, S., Masri, A., Alkazaleh, F., Guerra, D., Ferrari, P., Nanda, A., Rajab, A., Markie, D., Gray, M., Nelson, J., Grix, A., Sommer, A., Savarirayan, R., Janecke, A., Steichen, E., Sillence, D., Hausser, I., Budde, B., Nürnberg, G., Nürnberg, P., Seemann, P., Kunkel, D., Zambruno, G., Dallapiccola, B., Schuelke, M., Robertson, S., Hamamy, H., Wollnik, B., Van Maldergem, L., Mundlos, S., Kornak, U. (2009), Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41(9), 1016-1021. [Abstract]
  • Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D., Munns, C. (2009), Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature Clinical Practice Endocrinology & Metabolism. 5(3), 167-172. [Abstract]
  • Huber, C., Delezoide, A., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., Edery, P., Edouard, T., Fano, V., Gibson, K., Gillessen-Kaesbach, G., Giovannucci-Uzielli, M., Graul-Neumann, L., van Hagen, J., van Hest, L., Horovitz, D., Melki, J., Partsch, C., Plauchu, H., Rajab, A., Rossi, M., Sillence, D., Steichen-Gersdorf, E., Stewart, H., Unger, S., Zenker, M., Munnich, A., Cormier-Daire, V. (2009), A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics. 17(3), 395-400. [Abstract]
  • Tofts, L., Elliott, E., Munns, C., Pacey, V., Sillence, D. (2009), The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric Rheumatology Online Journal. 7(0), 1. [Abstract]
  • Bijarnia, S., Shaw, P., Vimpani, A., Smith, R., Pacey, V., O'Grady, H., Christodoulou, J., Sillence, D. (2009), Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. Journal of Paediatrics and Child Health. 45(7-8), 469-472. [Abstract]


  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., Ganguly, A., Shore, E. (2008), Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 121(5), e1295-300. [Abstract]
  • Gleeson, H., Wiltshire, E., Briody, J., Hall, J., Chaitow, J., Sillence, D., Cowell, C., Munns, C. (2008), Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. The Journal of Rheumatology. 35(4), 707-712. [Abstract]