Скачать или смотреть Episode 32 Luis Oliveira: v-ATPase Alliance

In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with Luis Oliveira, a neuroscientist, researcher at the Michael J. Fox Foundation, and co-founder of the V-ATPase Alliance—a global effort supporting families affected by ultra-rare genetic disorders linked to V-ATPase gene mutations.

Luis brings a rare dual perspective to the conversation: that of a scientist deeply trained in neurodegenerative disease research, and that of a parent navigating life with a child affected by a developmental and epileptic encephalopathy. Together, these experiences shape his mission to turn uncertainty, isolation, and under-diagnosis into collaboration, research momentum, and hope.

In this wide-ranging and deeply human conversation, we explore:

What V-ATPase genes do at a cellular level—and why their disruption can lead to severe neurological, renal, and metabolic conditions
The challenges families face when diagnoses are rare, recently described, and poorly understood
Why community building is just as critical as biomedical research in the rare disease ecosystem
How the V-ATPase Alliance is accelerating progress through patient data collection, biomarker development, biobanking, and drug repurposing efforts
The urgent need for interdisciplinary collaboration across clinicians, researchers, and families
And how love, resilience, and advocacy intersect in the life of Luis’ son, Danny, who inspires everything this work represents

This episode is a powerful reminder that rare disease research doesn’t start in the lab—it starts with families refusing to accept “there’s nothing we can do.”

Whether you’re a parent, clinician, researcher, advocate, donor, or simply someone seeking to better understand the rare disease landscape, this conversation offers insight, clarity, and purpose.

🎙️ Listen, learn, and join the movement to bring visibility, collaboration, and momentum to the rarest conditions among us. For more information, visit vatpasealliance.org/