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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.
Select Publications 2006- Gabbett, M, Jones, K, Cowell, C, Sillence, D, Wilson, M. Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of paediatrics and child health. 2006; 42:813-6
- Sparrow, D, Chapman, G, Wouters, M, Whittock, N, Ellard, S, Fatkin, D, Turnpenny, P, Kusumi, K, Sillence, D, Dunwoodie, S. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. American journal of human genetics. 2006; 78:28-37
2005- Bajaj, R, Smith, J, Trochet, D, Pitkin, J, Ouvrier, R, Graf, N, Sillence, D, Kluckow, M. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics. 2005; 115:e737-8
- Gensure, R, Mäkitie, O, Barclay, C, Chan, C, Depalma, S, Bastepe, M, Abuzahra, H, Couper, R, Mundlos, S, Sillence, D, Ala Kokko, L, Seidman, J, Cole, W, Jüppner, H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. The Journal of clinical investigation. 2005; 115:1250-7
- Fleming, F, Woodhead, H, Briody, J, Hall, J, Cowell, C, Ault, J, Kozlowski, K, Sillence, D. Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Journal of paediatrics and child health. 2005; 41:147-51
- Grewal, S, Wynn, R, Abdenur, J, Burton, B, Gharib, M, Haase, C, Hayashi, R, Shenoy, S, Sillence, D, Tiller, G, Dudek, M, van Royen-Kerkhof, A, Wraith, J, Woodard, P, Young, G, Wulffraat, N, Whitley, C, Peters, C. Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in medicine: official journal of the American College of Medical Genetics. 2005; 7:143-6
- Neas, K, Smith, J, Chia, N, Huseyin, S, St Heaps, L, Peters, G, Sholler, G, Tzioumi, D, Sillence, D, Mowat, D. Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A. 2005; 132:425-30
2004- David, G, Sillence, D, Hardwick, R, Opitz, J. A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. American Journal of Medical Genetics. Part A. 2004; 130A:389-92
- Hein, L, Bawden, M, Muller, V, Sillence, D, Hopwood, J, Brooks, D. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. Journal of molecular biology. 2004; 338:453-62
2003- Robinson, C, Sillence, D. The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. Journal Of Inherited Metabolic Disease. 2003; 25:681-693
- Van Der Slott, A, Sillence, D, 13 Researchers from, P. Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. Journal Of Biological Chemistry. 2003; 278 (42):40967-40972
- Lam, W, Chan, H, Sillence, D. Desbuquois syndrome: Clinical and radiological report fo the first two Chinese cases from a consanguineous family. Journal of Paediatrics and Child Health. 2003; 39:707-712
2002- Beighton, P, Francomano, C, Giedion, A, Hall, C, Hall, J, Horton, W, Kaitila, I, Krakow, D, Lachman, R, Le Merrier, M, Mortier, G, Mundlos, S, Poznanski, A, Rimoin, D, Savarirayan, R, Spranger, J, Superti-Furga, A, Unger, S, Washbrook, J, Warman, M, Wilcox, W, Winter, R, Sillence, D. International nosology and classification of constitutional disorders of bone (2001). American Journal Of Medical Genetics. 2002; 113:65-77
- Kozlowski, K, Masel, J, Sillence, D, Arbuckle, S, Juttnerova, V. Gracile bone dysplasias. Pediatric Radiology. 2002; 32:629-634
2001- Cowell, C, Sillence, D, Briody, J, Hall, J, Ault, J, Hooper, M. Monthly versus second monthly intravenous pamidronate therapy for osteogenesis imperfecta. Pediatric Endocrinology Montreal 2001. 2001; 38(1):56-63
- Mahoney, E, Widmer, R, Sillence, D. Opalescent dentine in two affected siblings. New Zealand Dental Journal. 2001; 51:1593-1606
- Taillandier, A, Lia-Baldini, A, Mouchard, M, Muller, F, Simon-Bouy, B, Serre, J, Bera-Louville, A, Bonduelle, M, Eckhardt, J, Gaillard, D, Myhre, A, Kortge-Jung, S, Larget-Pier, L, Malou, E, Sillence, D, Temple, I, Mornet, E. Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation. 2001; 108:179-185
- Dahlstrom, J, Arbuckle, S, Kozlowski, K, Peek, M, Thomson, M, Reynolds, G, Sillence, D. Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology. 2001; 37:91-93
- Al-Agha, A, Cowell, C, Briody, J, Hall, J, Anderson, D, Sillence, D. Cyclic intravenous Pamidronate therapy in chronic recurrent multifocal osteomyelitis (CRMO): A report of two cases. Pediatric Endocrinology Montreal 2001. 2001; 27, No. 3:309-312
2000- Stone, D, Carey, W, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E. Type 2 Gaucher disease: the collodion baby phenotype revisited. Archives of Disease in Childhood. 2000; 82:F163-F166
- Henderson, S, Sillence, D, Loughlin, J, Sykes, B. Germline and somatic mosaicism in achondroplasia. Journal of Medical Genetics. 2000; 37:956-957
- McCusker, E, Richards, F, Sillence, D, Wilson, M, Trent, R. Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience. 2000; 7:38-41
- Sillence, D. Osteogenesis Imperfecta 2000. Australian and New Zealand Bone and Minteral Society 1-th Annual Scientific Meeting: International Bone and Hormone Meeting. 2000; Hamilton Island Queensland, Australia; 2000
- Sillence, D, Briody, J, Hall, J, Ault, J, Howman-Giles, R, Cowell, C, Hooper, M. Cyclic intravenous pamidronate therapy for osteogenesis imperfecta. Australian and New Zealand Bone and Mineral Society 10th Annual Scientific Meeting - International Bone and Hormone Meeting. 2000; Hamilton Island Queensland, Australia; 2000
- Reardon, W, Smith, A, Honour, J, Hindmarsh, P, Das, D, Rumsby, G, Nelson, I, Malcolm, S, Ades, L, Sillence, D, Kumar, D, DeLozier-Blanchet, C, McKee, S, Kelly, T, McKeehan, W, Baraitser, M, Winter, R. Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?. Journal of Medical Genetics. 2000; 37:26-32
- Kerr, B, Smith, V, Ladusans, E, Sillence, D. Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings. Clinical Dysmorphology. 2000; 9:167-172
Publication Keywords Homeodomain Proteins; Transcription Factors; Telomere; Abnormalities, Multiple; Diphosphonates; Anti-Inflammatory Agents; Infant, Premature, Diseases; Bone and Bones; Chromosomes, Human, Pair 9; Iduronidase; Mucopolysaccharidosis I; Face; Skull; Osteogenesis Imperfecta; Hirschsprung Disease; Hypoventilation; Collagen Type I; Hyperostosis, Cortical, Congenital
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