Genetic hope: New gene therapy against Usher syndrome in sight!

Genetic hope: New gene therapy against Usher syndrome in sight!

On August 26, 2025 it will be announced that Professor Dr. Dr. Axel Schambach from the Hannover Medical School (MHH) is once again awarded the Proof of Concept Grant. This funding aims to research Usher syndrome, a genetic disorder that causes not only dramatic vision loss, but also profound deafness and balance problems. Usher syndrome type 1B (USH1B), which is caused by mutations in the MYO7A gene, is particularly affected. Unfortunately, there is no healthy gene variant that could be used as a therapeutic option for this hereditary disease mhh.de reported.

The research goal of Schambach and his team is to introduce a healthy copy of the defective gene directly into the eye. The aim here is to prevent the risk of blindness. The new EuroVision project is supported by the PoC grant and is designed to expand gene therapy to eye diseases. This project is of enormous importance due to the global prevalence of visual impairment, which affects more than 200 million people, and the fact that over two million people suffer from monogenic diseases that cause vision loss.

Aims and methods of gene therapy

EuroVision plans to transfer the healthy MYO7A gene directly to the retina, where important light stimuli are processed. A viral vector, also known as a gene taxi, is used to transport the gene into the cells. Lentiviral vectors (LV) are used here, which were developed in the previous iHEAR project and subsequently optimized in the MY-O-SENSES project.

Microinjecting the gene taxis into the eye presents a more complex challenge than in the inner ear because of the need to penetrate different barriers between sensory cells. To ensure that the Gentaxi meets strict quality standards for medicinal products, it is manufactured in a GMP production facility. In the preclinical phase, the therapy is first tested in a mouse model before clinical studies are initiated.

Collaboration and accompanying research

The EuroVision project is a collaboration between several important institutions: the MHH, the Johannes Gutenberg University Mainz, the Ludwig Maximilian University of Munich and the Academy of Sciences of the Czech Republic. The Proof of Concept (PoC) of the European Research Council (ERC) supports such innovative projects with an amount of 150,000 euros for 18 months to explore their commercial and social potential.

Usher syndrome is known to be the most common cause of combined hearing and vision loss, affecting approximately 3.8 to 6.2 per 100,000 people. It shows high phenotypic and genetic heterogeneity, which complicates conventional genetic screenings. Recent studies have documented mutations in the MYO7A gene that are associated with the occurrence of Usher type 1, further deepening our understanding of the disease. As in pmc.ncbi.nlm.nih.gov described, mutations responsible for USH1B could be identified using targeted next-generation sequencing.

Hopes for progress in gene therapy are growing given that there are already approved therapies such as Luxturna, which was the first gene therapy for eye diseases to be recognized in Europe and is aimed at treating certain forms of retinal degeneration. In addition, there are promising approaches that are currently being investigated in clinical studies for various diseases, including Usher syndrome.

The increasing interest in the study of these complex syndromes and the active community that has developed of patients and scientists are promising. At events such as the International Usher Syndrome Scientific and Patient Symposium in Mainz, where over 250 participants and barrier-free participation were made possible, the exchange of research results and therapy progress is actively promoted. This intensive networking helps to improve the care and treatment of patients with Usher syndrome, prorare-austria.org highlights.