When Luke Rosen's daughter was diagnosed with KIF1A—a rare, progressive neurological disorder—he didn't wait for answers. He and his wife built a community, launched a nonprofit, and became a driving force in rare disease research. In this episode, Luke shares how patient-led science accelerates treatments and reshapes what’s possible for families like his. 

Show Notes  

Sounds of Science - N=1 Episode
Charles River | Rare Disease 

Charles River | Rare Disease for Drug Discovery 

Charles River | ASO Screening Services
Personalized ASO Provides Improvement for a Girl with KAND< an Ultra-rare Disease 

SCA3: A Family Affair 

Susannah's Superhero Story