What does it take to unravel the mysteries of rare diseases? In this episode of PNRI Science: Rare Disease, Real Progress, we spotlight the people doing just that—scientists, clinicians, and students working at the front lines of discovery. Recorded live at PNRI’s 2025 Rare Disease Day Symposium, this episode captures candid reflections from researchers and medical professionals across career stages. Whether they’re building 3D models of rare skin disorders or investigating hard-to-detect mutations, these experts show how collaboration—and listening closely to patients and families—drives meaningful progress.
