Synopsis

Over the past 15 years, the treatment of genetic skeletal disorders has evolved from purely symptomatic, to the emergence of several precision therapies that promise to change the health outcomes of children affected by these conditions. We have led this knowledge transformation, enabled and fueled by the genomics revolution. This Grand Round will update the progress on the precision treatment of genetic skeletal disorders that sets a template for the better treatment of many other rare genetic conditions.

Speaker

Professor Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, NHMRC Leadership Fellow, and Research Group leader (Molecular Therapies) at Murdoch Children’s Research Institute. Ravi studied medicine at the University of Adelaide and completed his pediatrician fellowship in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998, and completed a Doctor of Medicine from the University of Melbourne in 2004. He completed a genetics fellowship at University of California, Los Angeles on a Fullbright Scholarship.

Professor Savarirayan’s research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 220 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.

Professor Savarirayan’s current clinical trials involve pioneering disruptive new therapies for the treatment of inherited bone and other rare genetic disorders, and he is a passionate advocate for equal access and uptake of these new genetic technologies and therapies.

Ravi was named one of the “Brilliant Minds” of MCRI over the past 30 years and was awarded the Institute’s research excellence award in 2020.