Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Comprehensive analysis of rod-cone photoreceptor degeneration associated with rhodopsin gene mutations

Project Coordinator

Centre de Recherche Institut de Vision (IdV) UMRS 968 INSERM - Université Pierre et Marie Curie CIC 503 Inserm Department of Genetics


Claudio Macaluso Regione Emilia Romagna Ophtalmology, University Hospital of Parma Parma, Italy
Eberhart Zrenner University of Tübingen Center for Ophtalmology Institute of Ophtalmic Research Tübingen, Germany
Eduardo Silva IBILI- Faculty of Medicine University of Coimbra Coimbra, Portugal
Eyal Banin Hadassah - Hebrew University Medical School Ophtalmology Jerusalem, Israel
Peter ANHEIT Medical University of Vienna Physiology Vienna, Austria

Rod-cone dystrophies (RCD) are a heterogeneous group of genetic retinal disorders leading to severe visual impairment. To date, over 180 different genes have been implicated which complicates the identification of disease mechanisms and treatments. There is indeed no current effective treatment for RCD. Hence, to develop therapeutic strategies, better understanding of the disease is required through the establishment of novel biomathematical models of the course of retinal degeneration. Recent progresses in genetic characterization of causative mutations in humans and animals combined with high resolution systems for in vivo imaging and function now enables to monitor degenerative process at the cellular level. Thus, accurate phenotype and genotype correlation is now possible. To achieve this, harmonization of phenotypic techniques, development of novel phenotypic strategies in both human and animal models that can then be used to assess novel treatment(s), as well as the constitution of phenotypically and genotypically well-characterized cohorts of patients from different ethnic background are essential. This is what we propose to fulfil in the current joint proposal gathering 6 groups composed of clinicians and scientists experts in inherited retinal diseases, their phenotypic assessment as well as retinal physiopathology and therapeutic research. Focus will be given to rod-specific gene mutations, i.e. RHO, for comprehensive phenotypic characterization of patients and animal models, definition of critical endpoint measurement for cone survival and test novel therapies.


E-Rare 2012 - Created by Toussaint Biger