Episode 2: Emil Kakkis | When Science Becomes Human

Emil Kakkis began his career wanting to focus on the science. He imagined a life in the lab, driven by research questions and discovery. What he didn’t anticipate was how deeply personal rare disease work would become.

In this conversation, Emil shares how his relationship with families affected by MPS I, particularly his partnership with Mark Dant and his son Ryan, reshaped his understanding of responsibility in science. Developing a treatment was no longer just about proving something could work. It was about staying with that work when the system made it difficult, and when walking away would mean leaving real people behind.

The episode also explores Emil’s decision to operate within the pharmaceutical industry, not as an endpoint, but as a vehicle for building strong teams and delivering high-quality therapies. Emil reflects on the challenges of moving science into practice, the role families play in shaping progress, and his broader vision for the future of rare disease, including new models that rethink how care, research, and treatment development could be structured.

This conversation reveals how relationships turn science into action, and how rare disease progress is often driven by people who never planned to lead, but chose not to walk away.

Guest: Emil Kakkis — Medical geneticist and rare disease drug pioneer who advanced enzyme replacement therapy for MPS I (Aldurazyme) and went on to found Ultragenyx and the EveryLife Foundation to accelerate rare disease treatments.

About Rare Rebels™ Rare Rebels™ is an ongoing effort to map the rare disease ecosystem through the people leading the charge, documenting how change happens and how connections across science, advocacy, and lived experience shape what becomes possible.