Genetic Skeletal & Lysosomal Disorders

Sydney Children's Hospital Network's Connective Tissue Dysplasia Service is one of the oldest and largest bone dysplasia clinics in the world. Our research is informed by the children we see in the clinic and focuses on the genetics of skeletal dysplasias and lysosomal disorders.

Our interdisciplinary team of clinical geneticists, endocrinologists, rehabilitation medicine specialists, orthopaedic surgeons and allied health professionals undertakes clinical research into skeletal dysplasias and implementation research in genomics to provide children the best possible care.

We have a strong research program in clinical genomics and bioinformatics, determining how new genome sequencing technologies can be translated into better healthcare, particularly for patients with skeletal dysplasias and other rare diseases.

The research team

> Professor Andreas Zankl, Genetic Skeletal Disorders and Lysosomal Research Group Co-Leader

Andreas is Head of Medical Genetics at The Children's Hospital at Westmead and a Clinical Geneticist. His clinical research interests include rare genetic disorders with particular emphasis on skeletal dysplasias. He is also a leading expert in bioinformatics and genomics translation. Please visit Andreas' University of Sydney profile page for more information.

> Other Research Team Members

  • Professor David Sillence, Genetic Skeletal Disorders and Lysosomal Research Group Co-Leader
  • Dr Kaustuv Bhattacharya, Clinical Trials Group Leader, email:

Key publications

Groza T, Tudorache T, Robinson PN, Zankl A (2015) Capturing domain knowledge from multiple sources: the rare bone disorders use case. J Biomed Semantics 6:21

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL (2015) Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet 24(5):1234-42

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, et al. (2015) A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A 167A(3):461-75

Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Phenotyping: targeting genotype's rich cousin for diagnosis. J Paediatr Child Health 51(4):381-6

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep 2:456

Paul R, Groza T, Hunter J, Zankl A. (2014) Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain. J Biomed Semantics 5(1):8

Groza T, Hunter J, Zankl A (2013) Decomposing phenotype descriptions for the human skeletal phenome. Biomed Inform Insights 6:1-14

Ireland PJ, Ware RS, Donaghey S, McGill J, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM. The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 49(2):E122-7