Dr Michel Tchan

Clinical Senior Lecturer
Genetic Medicine, Westmead Clinical School

Telephone +61 2 9845 9780
Fax +61 2 9845 9789

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Biographical details

Dr Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders. In 2002 he completed a PhD under Professor Tony Weiss, working on the molecular biology of the cancer related transcription factors c-Myc and Max. Concurrently Dr Tchan completed his MBBS through the University of Sydney and went on to undertake advanced training in clinical genetics at Westmead Hospital. He is currently responsible for the NSW Adult Genetic Metabolic Disorders Clinic as well as the Centre of Expertise supervising enzyme replacement therapy for Fabry disease, Pompe disease and the Mucopolysaccharidoses.

Research interests

Dr Tchan has active research interests in clinical aspects of the lysosomal storage disorders, particularly Fabry and Pompe diseases. He is involved in a number of collaborative programmes looking into neurological function in these diseases.

Selected publications

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Book Chapters

  • Cheung, R., Sillence, D., Tchan, M. (2012). Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/3, (pp. 101-105). New York: Springer.
  • Tchan, M., Sillence, D., Devine, K. (2011). Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports, (pp. 57-64). Berlin: Springer Verlag.

Journals

  • 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. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]
  • Tchan, M., Westbrook, M., Wilcox, G., Cutler, R., Smith, N., Penman, R., Strauss, B., Wilcken, B. (2013). The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients. JIMD Reports - Case and Research Reports, 10, 113-117. [More Information]
  • Tchan, M., Wilcken, B., Christodoulou, J. (2013). The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports - Case and Research Reports, 9, 81-84. [More Information]
  • Cho, Y., Tchan, M., Roy, B., Halliday, R., Wilson, M., Dutt, S., Siew, S., Munns, C., Howard, N. (2012). Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism. The Journal of Pediatrics, 160(2), 345-348. [More Information]
  • 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. [More Information]
  • Tchan, M., Sillence, D. (2011). Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal, 41(5), 422-426. [More Information]
  • Tchan, M., George, M., Thomas, M. (2011). Metastatic prostate cancer mimicking primary osteosarcoma of the jaw: an infrequent clinical case. Southern Medical Journal, 101(6), 657-659. [More Information]
  • 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 (JIMD), 34(2), 547-548. [More Information]
  • Tchan, M., Sillence, D. (2009). Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. Journal of Intellectual and Developmental Disability, 34(3), 275-9. [More Information]
  • Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Ades, L., Tchan, M., et al (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. [More Information]
  • Tchan, M., Weiss, A. (2001). Asn78 and His81 form a destabilizing locus within the Max HLH-LZ homodimer. FEBS Letters, 509, 177-180.

2013

  • 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. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]
  • Tchan, M., Westbrook, M., Wilcox, G., Cutler, R., Smith, N., Penman, R., Strauss, B., Wilcken, B. (2013). The Management of Pregnancy in Maple Syrup Urine Disease: Experience with Two Patients. JIMD Reports - Case and Research Reports, 10, 113-117. [More Information]
  • Tchan, M., Wilcken, B., Christodoulou, J. (2013). The mild form of menkes disease: a 34 year progress report on the original case. JIMD Reports - Case and Research Reports, 9, 81-84. [More Information]

2012

  • Cheung, R., Sillence, D., Tchan, M. (2012). Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/3, (pp. 101-105). New York: Springer.
  • Cho, Y., Tchan, M., Roy, B., Halliday, R., Wilson, M., Dutt, S., Siew, S., Munns, C., Howard, N. (2012). Recombinant Parathyroid Hormone Therapy for Severe Neonatal Hypoparathyroidism. The Journal of Pediatrics, 160(2), 345-348. [More Information]
  • 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. [More Information]

2011

  • Tchan, M., Sillence, D. (2011). Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal, 41(5), 422-426. [More Information]
  • Tchan, M., George, M., Thomas, M. (2011). Metastatic prostate cancer mimicking primary osteosarcoma of the jaw: an infrequent clinical case. Southern Medical Journal, 101(6), 657-659. [More Information]
  • 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 (JIMD), 34(2), 547-548. [More Information]
  • Tchan, M., Sillence, D., Devine, K. (2011). Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports, (pp. 57-64). Berlin: Springer Verlag.

2009

  • Tchan, M., Sillence, D. (2009). Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. Journal of Intellectual and Developmental Disability, 34(3), 275-9. [More Information]
  • Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Ades, L., Tchan, M., et al (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. [More Information]

2001

  • Tchan, M., Weiss, A. (2001). Asn78 and His81 form a destabilizing locus within the Max HLH-LZ homodimer. FEBS Letters, 509, 177-180.

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