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

As we all learned in 2020, getting ahead of the next major pandemic is a matter of global concern. For the Coalition for Epidemic Preparedness Innovations, or CEPI (cepi.net), it is their reason for existing. Joining me for this conversation are Valentina Bernasconi, Head of Laboratory Science for CEPI, and Marie-Eve Poupart, Lead Scientist In Charles River’s Immunology department. Together we discuss CEPI’s progress so far, how Charles River is contributing to the cause, and how we can plan for the unknown Disease X while simultaneously handling current outbreaks of deadly diseases like Ebola, Marburg, Nipah virus, Lassa Fever, and chikungunya.

What if we could predict how chemicals affect human lungs without using animals? In this episode of Sounds of Science, Mary McElroy, Head of Discovery Toxicology and Pharmacology at Charles River, joins us to explore a groundbreaking collaboration with MatTek Life Sciences. Together, they’re pioneering human-relevant, non-animal models that could revolutionize inhalation toxicology. From 3D lung tissues to computational dosimetry, discover how science is catching its breath and moving toward a safer, more ethical future.

Show Notes

• Inhalation Toxicology | Charles River 
• Mini Organs Offer Alternative Method for Predicting Drug Safety and Efficacy 
• Alternative Methods Advancement Project | Charles River 
• Charles River, in Collaboration with MatTek Corporation, Awarded Grant from the Foundation for Chemistry Research and Initiatives to Advance Research Alternatives 

For this episode I am joined by Megan and JC Leston, two parents who are fighting for their son Liam. The oldest of their five children, Liam was born with the rare Cri du Chat or 5p- syndrome. Through years of perseverance, they have created the Cri du Chat Research Foundation and started a movement to find a cure not only for Liam, but for all families affected by this genetic disease.

Listen now to hear their story, and find out more about their work and how you can help at www.criduchatresearch.org.

What if one decision could make or break your drug’s success? Join Charles River’s Sarah Gould as she unpacks the high-stakes, emotion-filled world of species selection—and why it’s about so much more than science. Discover how this critical choice shapes safety, speeds development, and drives innovation in today’s evolving research landscape.

Show Notes 

• Alternative Methods Advancement Project  | Charles River 
• Animals in Research  | Charles River 
• Research Models and Services | Charles River 
• Research Animals Models | Charles River 

Charles River scientist Nicole Hoekstra, herself a US Navy veteran, used her employer-supported sabbatical to help out local Oklahoma based nonprofit Inner Circle Mental Health, which focuses on aiding veterans and first responders who are struggling with their mental health. I am joined by Nicole and ICMH founder Kate Cooper to discuss what this service means to both of them, how we can support family who are reluctant to accept help, and how the COVID pandemic impacted the mental health of first responders. 

Ryan Cox from Microbial Solutions joins us to discuss the curious creatures living at the edges of life – from microbes pulled from the MIR space station to antibiotic resistant bacteria festering in shark mouths. Meet these and many more on this episode!

When Dalila Sabaredzovic’s sons were diagnosed with an ultra-rare genetic condition, she faced more questions than answers. But through resilience, advocacy, and the power of collaboration, her family's story has become a beacon of hope in rare disease research. In this deeply moving episode of Sounds of Science, Dalila shares her journey from despair to discovery—and how a global village of scientists came together to pursue a personalized treatment that could change everything.

Show Notes

• Taking a Customized and Collaborative Approach to Therapeutic Development
• Drug Discovery Services | Charles River
• ASO Screening Services | Charles River
• Rare Disease Research for Drug Development | Charles River
• Two in Eight Billion | Eureka blog

Chris Magee, Head of Policy and Media for the UK advocacy group Understanding Animal Research, and Naomi Charalambakis, Director of Science Policy & Communications at the US based advocacy group Americans for Medical Progress, joins me to discuss new directives from the US FDA and the EU regarding lab animal use. Join us to cover the realities of lab animal use today, as well as the history or public misinformation dating back before Charles Darwin!