Rob Collin

Professor in Molecular Therapy for Inherited Retinal Diseases, Radboudumc

Rob Collin is a principle investigator and group leader at the department of Human Genetics at the Radboudumc in Nijmegen, The Netherlands. With his team, he designs and develops novel therapeutic intervention strategies for patients with inherited retinal disease, with the ultimate aim to halt the progression of vision loss and prevent blindness. For this, he and his team use state-of-the-art technologies and model systems such as in-depth DNA and RNA sequencing, retinal organoids and zebrafish. His work has received global recognition and is funded by many national (NWO, ZonMW, Uitzicht) and international (Foundation Fighting Blindness USA, European Union, Retina UK) organizations.

Presentation: Molecular intervention for inherited retinal disease: From rare to ultrarare

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of rare diseases. Whilst pathogenic variants in some genes account for many thousands of affected individuals worldwide, others are less recurrent. At the level of the genetic variant itself, the heterogeneity is even larger. Technological advancements in molecular intervention strategies have enabled the successful development of genetic therapies for a few selected subtypes of IRD, with encouraging results. Yet, the genetic and allelic heterogeneity, different types of intervention strategies, and the suitability of clinical endpoints in different trials pose a challenge on the development of interventions for rare and ultrarare forms of IRD. During this presentation, I will provide some latest scientific insights in different intervention strategies, but also highlight the opportunities and challenges, to discuss the road ahead towards successful implementation of personalized interventions for IRD.

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