Genetic Skeletal & Lysosomal Disorders

Group Leaders: Prof David Sillence and Prof Andreas Zankl

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.