Professor Andreas Zankl
Professor of Medical Genetics
Genetic Medicine, Children's Hospital, Westmead
| Telephone | +61 2 9845 3215 |
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Biographical details
Professor Zankl is a Clinical Geneticist at the Children’s Hospital at Westmead, Professor of Medical Genetics at the University of Sydney, a Senior Principal Research Fellow in the Bone Biology Division of the Garvan Institute of Medical Research and a Visiting Scientist at the Kinghorn Centre for Clinical Genomics. He holds clinical genetics specialist qualifications from Switzerland and Australia, a medical doctorate in molecular biology and virology from Humboldt University, Germany and a Postgraduate Certificate in Bioinformatics from the University of Manchester, UK.
Research interests
In his clinical role, Prof Zankl is an internationally recognised expert on diagnosis and management of skeletal dysplasias, rare genetic disorders affecting skeletal development. He heads the Skeletal Dysplasia Clinic at the Children’s Hospital at Westmead that provides diagnostic advice and multidisciplinary care for children with skeletal dysplasias.
Prof Zankl is interested in the clinical and molecular characterisation of skeletal dysplasias. He uses Whole Genome Sequencing and other high-throughput genetic technologies to identify the genetic basis of skeletal dysplasias and related disorders such as osteoporosis and osteoarthritis. Prof Zankl is particularly interested in how clinical information can be combined with these large biological data sets to gain new insights into the disease mechanisms and skeletal biology. His research approach makes use of ontologies such as the Human Phenotype Ontology and applies data visualisation, machine learning, text mining and other computational data analysis strategies to clinical and genomic datasets.
Prof Zankl's other research areas are clinical genomics, bioinformatics, computational biology and computational medicine. He is particularly interested in the systematic capture and processing of clinical information to enable computational approaches to clinical data and to facilitate the integration of clinical data with the large biological datasets created by Whole Genome Sequencing and other -omics technologies. His research approach makes use of ontologies such as the Human Phenotype Ontology and applies data visualisation, machine learning and other 'Big Data' mining strategies to large clinical and genomic datasets.
Keywords
Bioinformatics; Computational biology; Genetic diseases; Musculoskeletal diseases; Radiology
Clinical Specialty
Genetic Medicine
Selected grants
2018
- Identification of Patients with Rare Genetic Diseases based on Phenotype Profiling; Zankl A; University of Sydney/Westmead Engineering and Design Collaboration Scheme.
Selected publications
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