Think of the heart's electrical system like a series of gates that control a current. In some people, these gates don't open correctly, which can lead to sudden heart failure. This work finds the genetic 'switches' that control these gates to predict who is at risk and create a way to fix them without surgery.
Current treatments for life-threatening cardiac arrhythmias are invasive, costly, and only 20% of Brugada syndrome cases are currently detectable via standard genetic testing.
The project is building polygenic risk scores (PRS) for arrhythmia prediction and high-throughput iPSC-derived cardiomyocyte models for drug testing.
If you are a drug discovery firm dealing with the lack of non-invasive arrhythmia treatments — this project developed high-throughput iPSC-CM models that allow for testing new drug safety and efficacy against NaV1.5 dysfunction.
If you are a genetic testing laboratory dealing with the fact that only 20% of Brugada syndrome cases are currently identified via SCN5A mutations — this project developed polygenic risk scores (PRS) to identify a much larger group of at-risk patients.
If you are a cardiac implant manufacturer dealing with the high cost and invasiveness of pacemakers — this project developed a path toward gene therapies that restore channel function, potentially reducing the need for device implantation.
Based on available project data, specific pricing or cost figures for the therapies are not provided; however, the project aims to provide a cheaper alternative to invasive pacemakers.
The project uses high-throughput human cardiomyocyte models derived from induced pluripotent stem cells, which are designed for scalable analysis of drug targets.
Based on available project data, there is no specific mention of patents or licensing agreements, though the project is currently in the research and development phase.
The project's models align with CiPA guidelines for assessing proarrhythmic risks, ensuring the results are relevant for regulatory drug safety standards.
The project period runs from 2023-10-01 to 2028-09-30, suggesting that clinical validation and therapeutic candidates will be developed by late 2028.
The consortium is research-heavy with 8 partners across 4 countries (CZ, DE, FR, NL). It maintains a 25% industry ratio with 2 industrial partners and 1 SME, indicating a strong academic foundation (3 universities, 3 research institutes) with a clear bridge to commercial application through the inclusion of industry players.
Contact the Institut National de la Santé et de la Recherche Médicale (INSERM) in France.
Contact us to identify potential licensing opportunities for the NaV1.5 polygenic risk scores.
