How a Foundation Built Its Own Drug Program for an Ultra-Rare Disease

Schaaf-Yang syndrome is an ultra-rare neurodevelopmental disorder that is closely related to but distinct from Prader-Willi syndrome. It typically presents from birth with poor muscle tone, feeding and breathing difficulties, and later evolves into a broad spectrum of more severe developmental delay, intellectual disability, autism, endocrine dysfunction, and disruptive sleep patterns. The Foundation for Prader-Willi Research’s GeneSYS initiative is leveraging antisense oligonucleotide technology to knock down the toxic truncated protein underlying Schaaf-Yang, orchestrating collaborations with academic scientists, contract research organizations, and patient families to move from cell and animal models toward first-in-human studies. We spoke to Theresa Strong, director of research programs for the Foundation for Prader-Willi Research, about the challenges of delivering therapy to the hypothalamus, navigating ultra-rare drug economics, and how patient-led organizations can drive sophisticated translational programs for conditions that affect only a few hundred people worldwide.