Molecular Pathogenesis and Epigenetic Rescue of Novel Human Models of ZC4H2-associated rare disorders.
Awardee: Julian Halmai
Institution: UC Davis
Grant Amount: $54,187
Funding Period: February 1, 2025 - January 31, 2026
Summary:
The main objectives of this project are to establish human models of three unique loss of function ZARD variants within control sex-matched IMR90 NSC, using gene editing and to characterize the cellular and molecular phenotypes associated with ZARD pathology, with interest in understanding the link between ZC4H2 loss of function and BMP-Smad signaling pathway dysregulation. This proposal, if successful with shed light onto ZARD related pathology and the potential targets for therapeutic intervention.