Imagine your heart's genetic code has a few typos that make the muscle weak and stretched. This project creates a master map of every possible typo in one specific gene to understand exactly how they break the heart. Once the map is ready, they use a high-tech 'molecular eraser' to fix those specific errors and restore the heart to health.
Dilated cardiomyopathy is a major contributor to heart failure, often caused by aggressive mutations in the RBM20 gene that are difficult to target with traditional medicine.
A comprehensive pathogenicity map of RBM20 variants and a muscle-specific gene editing toolkit using prime editing and nanobodies.
If you are a gene therapy developer dealing with the difficulty of targeting specific heart mutations — this project developed prime editing and nanobody-guided approaches that specifically tackle RBM20 mutations. This allows for the creation of class-specific treatments rather than one-size-fits-all drugs.
If you are a precision medicine lab dealing with unidentified variants in heart failure patients — this project developed a comprehensive map of all possible RBM20 variants. This enables the scoring of pathogenicity for mutations not previously identified in patients.
If you are a cardiovascular R&D firm dealing with high failure rates in heart failure drug trials — this project developed multi-omics profiling (transcriptomic, proteomic, phosphoproteomic) to identify new therapeutic targets. This provides a blueprint for moving from variant identification to therapy faster.
Based on available project data, there is no information regarding the cost or pricing of the technology.
The project uses high-throughput saturation mutagenesis screens, which suggests a capacity for large-scale data generation, but industrial manufacturing scale is not yet detailed.
Based on available project data, specific patent or licensing terms are not provided, though the project is coordinated by the European Molecular Biology Laboratory.
The project period runs from 2023-10-01 to 2028-09-30, indicating the research and development phase is ongoing until late 2028.
It is designed as a repair intervention using prime editing to revert deviant phenotypes back to a healthy state, acting as a curative rather than a palliative treatment.
The consortium is purely academic and research-driven, consisting of 3 partners from 2 countries (Germany and Czech Republic). With 0% industry participation and a mix of 1 university and 2 research organizations, the project is currently focused on fundamental discovery and bioengineering rather than immediate commercialization.
Contact the European Molecular Biology Laboratory (EMBL) in Germany.
Contact us to identify potential licensing opportunities for RBM20-specific gene editing tools.
