On Rare

In our 2025 year-in-review episode, On Rare reflects on a year filled with meaningful conversations and powerful storytelling. Joined by David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, we revisit moments that moved us, challenged us, and reaffirmed the importance of listening to the voices of rare disease communities. This year also marked an exciting milestone with the launch of On Rare: Innovators, a new series spotlighting leaders, including patients, caregivers, scientists, and advocates, who are taking action to transform the lives of those impacted by rare disease. We are deeply grateful to all of our guests and listeners for being part of the 2025 journey. Subscribe to continue learning with us in 2026.

En el episodio inaugural de On Rare: Innovadores, una nueva serie derivada de On Rare de BridgeBio, los presentadores David Rintell, director de abogacía de pacientes de BridgeBio, y Mandy Rohrig, directora sénior de abogacía de pacientes de BridgeBio, presentan a los oyentes a las personas que están transformando la comunidad de enfermedades raras a través de la defensa de los derechos, la compasión y la acción. La serie comienza en Gijón, España, con Carmen Alonso, fundadora de la Fundación ALPE, quien ha dedicado su vida a mejorar la atención y construir una comunidad para las personas y familias que viven con acondroplasia. Lo que comenzó como el viaje personal de Carmen, una madre que buscaba información y apoyo, se convirtió en una red internacional que ha transformado la comprensión y el manejo de la acondroplasia y otras displasias esqueléticas. Acompañada por su hijo Yago y su colega Fani, Carmen reflexiona sobre las lecciones de amor e inclusión que han guiado su trabajo y la convicción de que "siempre se puede hacer algo". A través de la historia de Carmen, On Rare: Innovators celebra a los líderes cuyas ideas y determinación impulsan el cambio en la ciencia, la defensa de los derechos y la comunidad. Su trabajo nos recuerda que la innovación no se encuentra solo en los laboratorios o las salas de juntas, sino que florece dondequiera que las personas decidan actuar con propósito y corazón.

In this episode of On Rare Innovators, Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, and David Rintell, Head of Patient Advocacy at BridgeBio, talk with Nasha Fitter, a parent, entrepreneur, and rare disease leader whose determination was reshaped the day her daughter Amara was diagnosed with FOXG1 syndrome. Drawing on a career defined by bold pivots and purpose-driven problem solving, Nasha is challenging long-held assumptions about what small, rare disease communities can achieve. From building the FOXG1 Research Foundation to co-founding Citizen Health, she has pushed for new models of data, drug development, and patient empowerment. Nasha’s story is a reminder that innovation often begins with a single question: “Who says we can’t do this?”

Greg’s journey with LMNA cardiomyopathy, a rare inherited heart condition, began in high school when he experienced sudden episodes of rapid, irregular heartbeats during track practice. The cause remained a mystery for years, leading to misdiagnoses and untreated disease progression. During that time, Greg faced life-threatening arrhythmias and required several implanted devices before finally receiving a heart transplant. That experience, and the challenges that came before it, ultimately inspired his passion to create change and help others facing the same uncertainty. In this episode of On Rare, David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, speak with Greg about the long road to diagnosis, the emotional impact of learning he had passed the condition on to his children, and his transformation into an advocate as president of the DCM Foundation. He also shares how his personal experience led to the launch of Everygene, a free genetic testing program for people with cardiomyopathies.

Dr. Clayton Beard, Chief Scientific Officer at BridgeBio Gene Therapy, provides a high-level medical overview of LMNA-related dilated cardiomyopathy, a form of heart disease caused by mutations in the LMNA gene that compromise the structural integrity of heart cells and disrupt electrical signaling. He explains how these changes can cause dangerous arrhythmias, weaken the heart muscle, and lead to heart failure, making LMNA cardiomyopathy one of the most severe genetic forms of the condition. Dr. Beard also highlights the importance of early genetic testing for at-risk families, the role of research in improving detection and treatment, and how a better understanding of LMNA can lead to life-saving interventions.

In the inaugural episode of On Rare: Innovators, a new sister series of On Rare from BridgeBio, hosts David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Senior Director of Patient Advocacy at BridgeBio, introduce listeners to the changemakers reshaping the rare disease community through advocacy, compassion, and action. The series begins in Gijón, Spain with Carmen Alonso, founder and longtime leader of the ALPE Foundation, who has dedicated her life to improving care and building community for people and families living with achondroplasia. What began as Carmen’s personal journey as a mother seeking information and support grew into an international network that has transformed how achondroplasia and other skeletal dysplasia are understood and managed. Joined by her son Yago and longtime colleague Fani , Carmen reflects on the lessons of love and inclusion that have guided her work and the belief that “you can always do something.”
 
Through Carmen’s story, On Rare: Innovators celebrates leaders whose ideas and determination drive change across science, advocacy, and community. Their work reminds us that innovation isn’t only found in laboratories or boardrooms—it thrives wherever people choose to act with purpose and heart.