3 February 2021

Effective 16 January 2021, molecular geneticist Rob Collin, theme Sensory disorders, has been appointed Professor of 'Molecular Therapy for Inherited Retinal Diseases' at Radboudumc and Radboud University.

As a professor at Radboudumc, he will focus on inherited diseases of the retina. This heterogeneous group of diseases generally leads to progressive loss of vision, in some cases resulting in complete blindness. Advances in "genetic technologies" have made it increasingly possible to repair the adverse effects of inherited mutations in various ways.

Collin's past research has made it possible to repair a particular RNA defect that underlies congenital blindness. This promising technique is now being tested in patients. Recently, Collin received a grant from the European Joint Programma on Rare Diseases for a project that he is coordinating in which he, together with European colleagues, will develop novel genetic therapies to combat certain inherited retinal diseases.

In this new position, in part made possible by the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB), Rob Collin, on the one hand, wants to develop more of these effective therapies for as many genetic defects as possible and, secondly, by collaborating with various stakeholders,  to ensure that these therapies actually reach patients.

From gene defect to treatment

After studying chemistry at Nijmegen's Radboud University, Rob Collin (1978, Tegelen) obtained his doctorate on the role of proteins in Alzheimer's disease. In 2006, he started working at the Radboudumc as a postdoc, first at the Department of Ear, Nose and Throat Surgery and then at the Department of Genetics, to which he is still affiliated. Here, he was involved in the discovery of several genes that, when mutated, can lead to hereditary hearing impairment/deafness or hereditary low vision/blindness.

In 2010, shortly after receiving his VENI grant, he worked at the University of Philadelphia in the US, where he immersed himself in the development of gene therapy. With the acquired knowledge and expertise, he then continued to build his own research group, with the aim of developing new therapies for inherited retinal diseases.

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