Federal Grant Award Summary

The University of Miami's Office of Research Administration received a $664,101 Project Grant from the National Institute of Child Health and Human Development under the Child Health and Human Development Extramural Research program (CFDA 93.865) on June 1, 2026, with a completion date of May 31, 2031. This investigator-initiated research award supports a five-year study investigating the impact of disease-associated mutations in the Polycomb system, specifically focusing on how missense mutations in the RNF2 gene—which encodes a component of Polycomb Repressive Complex 1 (PRC1)—contribute to neurodevelopmental disorders and intellectual disabilities in pediatric patients.

The research deliverables include establishing novel knock-in embryonic stem cell lines and developing a new mouse model carrying a monoallelic RNF2 missense mutation to characterize how mutant RING1B protein disrupts polycomb complex assembly and impairs neuronal differentiation. The project employs chromatin immunoprecipitation sequencing (ChIP-seq) and mass spectrometry to investigate chromatin occupancy and recruitment mechanisms, evaluates potential rescue strategies, and examines impacts on hippocampal structure and behavioral outcomes in mice. The research aims to elucidate previously unexplored mechanisms by which polycomb gene mutations impair human development and generate foundational knowledge to inform therapeutic interventions for neurodevelopmental disorders.