The Galactosemia Podcast

BridgeBio recently stopped their research and development of gene therapy for Galactosemia. This came as a shock to many of us. I talked to the CEO of BridgeBio on the phone, and in this episode I report back what he told me.

In this episode of The Galactosemia Podcast, Ryan sits down with Clayton Beard and Mandy Rohrig from BridgeBio to explore the promise and challenges of gene therapy for galactosemia. They break down how gene replacement works, why viruses are used as delivery systems, and what families should know about the current state of research.

To get in touch with Mandy - [email protected]

In this episode of The Galactosemia Podcast, I sit down with Maureen Bell, who was diagnosed with classic galactosemia just seven days after her birth in 1972—long before the condition was part of newborn screening. Maureen shares what it was like growing up in the seventies, eighties, and nineties with galactosemia, from childhood struggles and dietary restrictions to the emotional challenges of premature ovarian insufficiency.

Now 53, Maureen reflects on how the galactosemia diet has evolved over the decades, what it meant to be part of the very first galactosemia conference, and how she turned personal challenges into powerful advocacy—including speaking at national conferences and even before Congress.

In this episode, we dive into new research on bone marrow transplantation as a potential approach to treating Classic Galactosemia. Dr. Judy and her team share insights from their recent study, walking us through why they pursued this line of research, how the experiments were designed, and what they discovered. We talk about the role of biomarkers, the challenges of translating findings from animal models to human patients, and the importance of continued NIH funding to push rare disease science forward. Along the way, the team reflects on their own experiences in the lab and what it means to see their work connect to families living with Galactosemia

After a short hiatus, Ryan and Jill return to share an in-depth update on life with their one-year-old son, Elliot, who has classic galactosemia. They walk through their months-long journey applying for and securing early intervention services in California—what worked, what took far too long, and how they successfully advocated for speech therapy before the typical 18-month threshold. Along the way, they discuss the challenges and wins of Elliot’s first year with solid foods, navigating dietary restrictions, and discovering his first words.