Donders Institute for Brain, Cognition and Behaviour
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Theme 2: Perception, Action and Control

Molecular Therapy for Inherited Eye Disorders

Inherited retinal diseases (IRDs) display a tremendous clinical and genetic heterogeneity, with more than 200 different causative genes identified to date. Recently, the first gene augmentation therapy for IRD patients with mutations in the RPE65 gene has been approved by the US Food and Drug Administration (FDA) as an officially registered drug. This success has boosted the development of several different therapies for other genetic subtypes of IRD. The general idea, however, is that each different subtype may need its own specific tailor-made therapeutic approach.

In my research group, we are constantly developing new preclinical therapeutic strategies for selected genetic subtypes of IRD, by applying different approaches and using various cellular and animal models. Click on the topics of my research projects below for more info:
- Antisense oligonucleotide therapy for CEP290-associated LCA
- Antisense oligonucleotide therapy for ABCA4-associated Stargardt disease
- Expanding the use of antisense oligonucleotide therapy for other subtypes of IRD (docx, 16 kB)
- Gene augmentation therapy for EYS- or PCARE-associated RP
- Restoring proteostasis to treat retinal ciliopathies (docx, 17 kB)
- Restoring visual processing in mutant models for congenital blindness (docx, 15 kB)
- Unraveling ZNF408-associated familial exudative vitreoretinopathy

Name: R.W.J. Collin
Telephone: 024-3613750
Visiting address:

Department of Genetics/ Route 855
Geert Grooteplein Zuid 10
6525 GA Nijmegen
The Netherlands

Postal address: Department of Genetics/855
PO BOX 9101
6500 HB The Netherlands

Key grants and prizes

2018  Retina UK, Research Award
2017  Ed Gollob Board of Directors Award, in recognition of outstanding work that supports vision-saving treatment and cures
2017  Foundation Fighting Blindness USA, Program Project Award
2016  International Journal of Molecular Sciences, Young Investigator Award
2012  Foundation Fighting Blindness USA, Individual Investigator Award
2010  Retina Netherlands Career Development Award
2009  NWO-ZonMW Veni Award

Key publications

Main collaborators

Prof. F.P.M. (Frans) Cremers, principal investigator
Prof. A.I. (Anneke) den Hollander, principal investigator
Prof. C.B. (Carel) Hoyng, principal investigator
Prof. R. (Ronald) Roepman, principal investigator
Prof. P (Paul) Tiesinga, principal investigator
Prof. R.J.A. (Richard) van Wezel, principal investigator
Dr. A. (Alejandro) Garanto, junior principal investigator

Prof. E. (Elfride) de Baere, Ghent University, Ghent, Belgium
Prof. J. (Jean) Bennett, Scheie Eye Institute, Philadelphia, USA
Prof. M.E.C (Michael) Cheetham, University College London, London, UK
Prof. M. (Marius) Ueffing, University of Tübingen, Tübingen, Germany
Prof. U. (Uwe) Wolfrum, Johannes-Gütenberg University, Mainz, Germany
Dr. L.D. (Lasse) Jensen, University of Linnköping, Linnköping, Sweden
Dr. Q (Qin) Liu, Massachusetts Eye and Ear Infirmary, Boston, USA
Dr. L.H. (Luk) Vandenberghe, Massachusetts Eye and Ear Infirmary, Boston, USA

JAN 19

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Research Theme 2:
Perception, Action and Decision-making

Research Group
Molecular Therapy for Inherited Eye Disorders

Principal Investigator
R.W.J. Collin, PhD

Group members

Assistant professor
Alejandro Garanto

PhD candidates
Tess Afanasyeva
Dyah Karjosukarso
Tomasz Tomkiewicz

Lonneke Duijkers
Anita Hoogendoorn

MSc students
Alejandro Allo Anido
Albert Ruiz Llombart

BSc students
Joep Lurvink
Manon Verkoelen