Skeletal Therapies

Research area:  Genetics

To improve current and future health outcomes in children with skeletal disorders by conducting clinical trials utilising new precision therapies.

Prof Ravi Savarirayan leads the Skeletal Therapies research group and is a Professorial Fellow at the University of Melbourne, and Consultant Clinical Geneticist at Victorian Clinical Genetics Services. He is a clinical geneticist, and translational scientist with bench-to-bedside expertise in genetic disorders of the skeleton.

Skeletal dysplasia is an individually rare, but collectively common musculoskeletal disorders caused by impaired development, growth, and maintenance of the human skeleton. Individuals impacted by these conditions experience a variety of medical complications, functional limitations, and psychosocial challenges across their lifespan. Treatment options for these conditions are limited, with poor outcomes. However, recent advances in genetic technologies have allowed us to better understand the mechanisms underlying these conditions. This has revealed drug targets to treat these conditions at their very source (precision medicine).

We focus research on translational outcomes of basic/clinical research, such as clinical drug trials, natural history studies, and best practice guidelines for management based on current evidence.

We aim to understand the molecular basis of these disorders to improve diagnosis and counselling, identify new therapeutic targets, and test the effectiveness of new treatments to improve the quality of life for children with these conditions.