A research team led by Professor Dr. Dr. Axel Schambach from the Hannover Medical School (MHH) has once again received significant funding from the European Research Council (ERC). The Proof of Concept Grant supports the EuroVision project, which is developing a novel gene therapy for Usher syndrome type 1B (USH1B). The aim is to prevent imminent blindness by introducing a healthy copy of the defective MYO7A gene into the retina.

Usher syndrome type 1B is a serious hereditary disease that leads to progressive vision loss, severe deafness and balance disorders. The cause is a mutation in the MYO7A gene, which is present in both gene copies in those affected, so that no healthy variant can compensate for the defect. Millions of people worldwide are affected by visual impairments, about 43 million are blind, with monogenic diseases such as USH1B responsible for over two million cases. In view of limited treatment options, the team is focusing on innovative gene therapy.

In the iHEAR project, funded by an ERC Consolidator Grant, Schambach’s team has already succeeded in inserting intact MYO7A gene copies into the inner ear and partially correcting hearing and balance disorders. In the subsequent MY-O-SENSES project, a lentiviral vector system was optimised that safely transports large quantities of genetic material as a “gene taxi”. This system is now being used in the EuroVision project to microinject the MYO7A gene directly into the retina. However, the retina, which processes light stimuli, poses a greater challenge than the inner ear, as interconnected sensory cells and barriers make access difficult.

The research team is working to validate the effectiveness of the viral vector in the eye, initially in preclinical studies with mouse models. If successful, the therapy will be produced under strict quality standards for clinical use. After regulatory approval, clinical trials could follow to test safety and efficacy in humans. The researchers are convinced that their therapy will be the first treatment to effectively combat vision loss caused by MYO7A mutations and significantly improve the quality of life of those affected.

The EuroVision project was developed in cooperation with the Johannes Gutenberg University Mainz, the Ludwig Maximilian University of Munich and the Academy of Sciences of the Czech Republic. The Proof of Concept Grant of 150,000 euros supports the project for 18 months and promotes the further development of the research results towards clinical application.

Editor: X-Press Journalistenbüro GbR

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