From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development

Abstract

Rare diseases affect over 30 million people in the United States and 300 million globally, yet 95% lack FDA-approved treatments. Rare disease therapy development poses unique challenges and opportunities. Shwachman-Diamond syndrome (SDS) is emerging as a model rare disease due to its uniform genetics, robust molecular understanding, and mature research infrastructure-including de-risking through model development, regulatory engagement, patient community development, ICD-10 implementation, and data access, driven by the SDS Alliance-a research-focused patient advocacy organization.