Dr. Ravi Savarirayan has been at the forefront of research advancing care for children with skeletal conditions, including achondroplasia, for more than two decades.
A clinical geneticist by training, Dr. Savarirayan serves as Group Leader of Skeletal Biology at Murdoch Children’s Research Institute in Melbourne, Australia. He is the founding member of the Skeletal Dysplasia Management Consortium and served as President of the International Skeletal Dysplasia Society from 2009 to 2011.
Dr. Savarirayan recently attended BioMarin’s Rare Disease Day event in San Rafael. During his visit, he spoke to employees about why he has dedicated his career to improving the lives of people with skeletal dysplasias, progress over the past two decades and where he hopes to see the field go next. Read below to learn more about what Dr. Savarirayan shared with us.
Q: Can you tell us a little bit about your career journey and what inspired you to push for advancements in skeletal dysplasia care?
I came to the United States in 1998 as a Fulbright Scholar and worked at UCLA with Dr. David Rimoin, a pioneer in genetics who I was lucky enough to have as my mentor. I learned about skeletal dysplasias during my time there. After I went back to Australia and finished my doctorate, I began to see firsthand what life was like for children with these conditions. One month in particular, we saw two children with achondroplasia who had very severe health issues. I went home and said to my wife “I think I need to see whether we can work out how to better manage and treat this condition.”
Around the same time, I began working with BioMarin. I eventually became the lead investigator on BioMarin’s study evaluating a potential new medicine. It’s been an incredible journey these past two decades as our research has not only helped enable advancements in achondroplasia, but opened the door for clinical trials in other skeletal conditions as well.
BioMarin’s Michael Ash (left), Senior Vice President, Head of Skeletal Conditions Business Unit, interviewed Dr. Savarirayan at the company’s Rare Disease Day event in February.
Q: How have you seen achondroplasia care evolve over the years, and what are you hoping to see next?
When I first entered the field, it was just a barren landscape, and there was a lot of skepticism about making meaningful progress, particularly in the form of treatment. People had a thousand reasons why it shouldn’t be done, but you only need one reason to do it. It‘s been remarkable to see how much has changed in just the past few years, but the work is not done. It’s the end of the beginning of the journey. We need to make sure that every family with a child with achondroplasia receives the right information to make the best decisions for that family.
It’s really a privilege to do this work. My favorite days are when I get to speak directly to patients and families.”
Q: On the topic of ensuring families have access to the right information, you recently co-authored the first international achondroplasia treatment guidelines with a group that included members of the academic, healthcare and patient advocacy communities. Can you tell us about that process and what you’re hoping comes from these guidelines?
The reality is that this condition is quite rare and many physicians have questions about what best practice looks like. In order to better serve the community, we got together as a group of clinicians, allied health workers and patient advocates to provide best–practice guidelines on the things that should happen as a family of a child with achondroplasia is considering the care options that are available, including treatment. We want to make sure families understand everything that goes into this decision and empower them to advocate for proper monitoring and follow-up. I’m excited about the potential of these guidelines and want to see them implemented as widely as possible, as we continue working to help improve the overall health of people with achondroplasia.
Q: Can you expand on the importance of looking beyond height to overall health within the achondroplasia community?
We know that people with achondroplasia can face serious health issues, including sleep apnea, foramen magnum compression, spinal stenosis and chronic back pain, among other potential complications that can impact quality of life. Supporting growth-related development has incredible potential and is a big piece of the puzzle. We need to keep our eyes on lifelong health. This is what my team and I are focused on, and we’re trying to pass that perspective and passion on to the next generation of clinicians and researchers in this space.
It’s really a privilege to do this work. My favorite days are when I get to speak directly to patients and families. This inspires me to keep going so that, more and more, the parents I work with don’t have to worry about a medical condition – they can just enjoy their children for the incredible kids they are.
Dr. Savarirayan (right), speaks with Juliana (left) and Brad (second from left), parents to Palmer (center), at BioMarin’s San Rafael headquarters on Rare Disease Day.
