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RetinAward 2021 for Mathieu Quinodoz

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Mathieu Quinodoz, bioinformatics researcher in our Ophthalmic Genetics Group led by Carlo Rivolta, wins CHF 30 000 to support his project: «Increasing the molecular diagnostic rate of inherited retinal degenerations and other retinal diseases by combining high-throughput sequencing with an extensive analytical pipeline».

About the winning project

Mathieu and the Ophthalmic Genetics Group will carry out an in-depth analysis of the genome of patients with inherited retinal degenerations (IRDs), whose previous examinations did not lead to a diagnosis. Their 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.

Having a molecular diagnosis for every patient becomes increasingly important. “We need to advance knowledge in the field for a better understanding of the diseases. A clear molecular diagnosis is key for appropriate genetic counseling, and also very important for each patient’s emotional relief. Plus it is an essential prerequisite for the access to gene therapies”, says Mathieu.

The ophthalmic genetics group has already analyzed hundreds of affected individuals with their custom-made computer pipeline. Their tools built in-house, DOMINO and AutoMap, are freely available to the entire research community. “We strongly believe that our work will further improve the molecular diagnostic rate for patients with IRDs”, Mathieu says.

About the Award

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. The sponsor of the RetinAward is Bayer (Schweiz) AG. The award is endowed with CHF 30 000.  

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