April 14, 2026 (Ottawa/Vancouver) – The Stem Cell Network (SCN) and the Rare Diseases: Models and Mechanisms Network (RDMM) are pleased to announce Dr. Gilda Stefanelli from the University of Ottawa and Dr. Xiang-Jiao Yang from McGill University as the latest recipients of the SCN-RDMM Catalyst Grant.
The SCN-RDMM partnership supports stem cell and organoid researchers with expertise in genes, pathways, or cellular systems in studying new or understudied genes associated with rare diseases.
Dr. Stefanelli, an Assistant Professor at the University of Ottawa, will lead the project “Investigating the relationship between impaired SRCAP-mediated epigenetic modifications and the development of Floating-Harbour Syndrome and SRCAP-related neurodevelopment disorders.” Using stem cells from affected patients, the team will recreate early stages of human brain development to study how SRCAP mutations alter gene regulation and neuron formation. The research aims to uncover mechanisms driving disease and support the development of future precision therapies.
Dr. Yang, a Professor at McGill University, will lead the project “Generation and analysis of KAT8 preclinical models.” The team will develop preclinical models using genetically engineered mice, neural stem cells, and brain organoids to study the impact of mutations in the KAT8 gene linked to Li-Ghorbani-Weisz-Hubshman Syndrome, a newly identified rare genetic disorder. These models will help researchers better understand the disease and provide tools for testing potential therapies.
The SCN-RDMM Catalyst Grant awards will be available on an ongoing basis through RDMM’s Catalyst Grant process. Researchers using stem cells or organoids to model a rare disease gene variant may also qualify for an SCN award supplement, which is granted on a first-come, first-reviewed basis.
