Research
Small Molecule Repurposing Screen
Dr. Erin Eun-Young Ahn, Ph.D.
University of Alabama at Birmingham
Started June 2024
Funding
Foundation-funded; initial screening phase
Screening libraries of existing FDA-approved and investigational compounds for molecules that can compensate for reduced SON function, potentially accelerating the path to clinical application.
Drug repurposing screens test whether compounds already approved or in development for other conditions can address the molecular consequences of SON haploinsufficiency. Because these molecules have existing safety data, successful hits could reach ZTTK patients years faster than novel drug development.
The screen uses cellular assays built on the iPSC and mouse model platforms to evaluate whether candidate molecules restore normal RNA splicing patterns, improve cell proliferation, or rescue other measurable phenotypes associated with SON loss-of-function.
This initial phase focuses on identifying lead compounds and understanding their mechanism of action. Promising hits will advance into dose-response studies and testing in the mouse model before any consideration of human clinical trials.