Our GEMIN5 project is an ongoing collaborative effort supported by a grant from the National Institutes of Health (NIH). We are investigating the functional and pathogenic consequences of GEMIN5 mutations using a variety of patient-derived iPSC models, genetic tools, and animal models. The project involves contributions from clinical and research collaborators across more than 20 countries, allowing for an unprecedented collection of clinical, genetic, and functional data. We welcome additional collaborators interested in data sharing, functional analysis, and therapeutic development related to GEMIN5-associated disorders.
GEMIN5