The RetinAward 2021 has been awarded to Dr Mathieu Quinodoz, bioinformatician in the Ophthalmic Genetics Group of the Institute of Molecular and Clinical Ophthalmology IOB Basel.
The RetinAward is a research award for young researchers in the field of vitreo-retinal research in Switzerland. The Swiss VitreoRetinal Group SVRG, subgroup of the Swiss Society of Ophthalmology SSO, aims to support research by funding an outstanding research project. Sponsor of the RetinAward is Bayer (Schweiz) AG. The award is endowed with CHF 30 000 to support the projected work. In 2021, Mathieu Quinodoz presented the winning project:
«Increasing the molecular diagnostic rate of inherited retinal degenerations and other retinal diseases by combining high-throughput sequencing with an extensive analytical pipeline».
In this project, the IOB team will analyze in-depth the genome of individuals suffering from inherited retinal degenerations (IRDs) and whose previous investigations were negative. The goal is to increase the molecular diagnostic rate by using exome and genome sequencing, together with a state-of-the-art analysis pipeline and software developed in-house.
This project is important for advancing the knowledge in the field and for a better understanding of the diseases. But more importantly, a molecular diagnosis is key for each patient’s emotional relief, appropriate genetic counseling, and access to gene therapies. With the recent approval of Luxturna® by regulatory agencies, a new era has begun for the treatment of IRDs and many more gene therapies are expected being successfully developed in the coming years. However, to be able to access these specific therapies, a molecular diagnosis is required. Therefore, achieving a molecular diagnosis for every patient will become increasingly important in the future.
M. Quinodoz, Prof. Carlo Rivolta, the leader of the ophtalmic genetics group, and the other members have already analyzed hundreds of affected individuals using a custom-made computer pipeline, with a high efficiency. They also built their own tools, such as DOMINO and AutoMap, and made them freely available to the community. Therefore, the group strongly believes that it can further improve the IOB analysis pipeline in order to achieve a higher molecular diagnostic rate for patients suffering from IRDs. The 2021 RetinAward for M. Quinodoz adds another trophy to the considerable collection of IOB staff research awards.
Dr. Quinodoz‘ Affiliations:
Institute of Molecular and Clinical Ophthalmology Basel (IOB), CH
Department of Ophthalmology, University of Basel, CH
Department of Genetics and Genome Biology, University of