When Terry Pirovolakis learned his son had an ultra-rare neurodegenerative disease, SPG50, he refused to accept “no options.” What started as a desperate search for hope became Elpida Therapeutics, a nonprofit driving gene therapy innovation for multiple rare diseases. In this episode, Terry shares the remarkable journey from diagnosis to clinical trials, the power of partnerships, and why urgency matters when every day counts.

Show Notes

• From Mystery to Medicine: The Science Behind a Mother’s Search | Podcast
• Taking a Customized and Collaborative Approach to Therapeutic Development | Podcast
• Rare Disease Research for Drug Development | Charles River
• Rare Disease | Charles River
• Discovery | Charles River
• Beyond The Diagnosis

What happens when a rare disease diagnosis turns life upside down? In this episode of Sounds of Science, host Mary Parker sits down with Bo Bigelow, Amber Freed, and David Fischer to explore the breakthroughs, challenges, and human stories behind Hao-Fountain Syndrome. From a father’s fight for his daughter Tess to cutting-edge drug repurposing screens, discover how science, advocacy, and community are rewriting the future for families worldwide.

Show Notes

Rare Disease | Charles River

Vital Science Podcast: Strength in Numbers
Rare Disease Research for Drug Development

Foundation for USP-7 Related Diseases

Stronger Every Day Podcast

When Patricia Weltin’s daughters were diagnosed with Ehlers-Danlos Syndrome after years of uncertainty, she turned her frustration into a global movement. In this episode of Sounds of Science, Patricia shares the story behind Beyond the Diagnosis, a powerful art and advocacy initiative that uses portraiture to humanize rare diseases and inspire empathy in medical professionals, students, and communities around the world. From medical schools to courthouses and even Parisian galleries, the traveling exhibit is reshaping how we see children with rare diseases—not as diagnoses, but as vibrant individuals with stories worth telling. Tune in to hear how Patricia’s mission is bridging the gap between science and compassion, and how you can help carry it forward.

Show Notes

• From Mystery to Medicine: The Science Behind a Mother’s Search | Podcast
• Taking a Customized and Collaborative Approach to Therapeutic Development | Podcast
• Rare Disease Research for Drug Development | Charles River
• Rare Disease | Charles River
• Discovery | Charles River
• Beyond The Diagnosis