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 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.