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.

European research project on mendelian inherited optic neuropathie

Project Coordinator

Biochemistry and Genetics CHU Angers


Andrea Matrinuzzi E. medea Scientific Institute Department of Genetics Conegliano, Italy
Guy Lenaers Institut des Neurosciences de Montpellier et INSERM U583 CHU St Eloi Montpellier, France
Bernd Wissinger Eberhard Karls Universität Tübingen Centre for Ophtalmology Molecular Genetics Laboratory Tübingen, Germany

The ERMION consortium involves four research teams from France (D Bonneau, Angers; G Lenaers, Montpellier), Germany (B Wissinger, Tûbigen) and Italy (A Martinuzzi, Conegliano), and focuses on inherited optic neuropathies one of the most frequent causes of hereditary vision loss. Optic neuropathies have an estimated prevalence of 1:10.000 and affect more than 50.000 persons in Europe. In 2000, two ERMION partners identified the gene OPA1 as the major gene responsible for autosomal dominant optic atrophy, the most frequent form of optic neuropathies. ERMION partners work together since 2003 to understand the pathophysiology of optic neuropathies and, more particularly, the pathomechanisms involved in OPA1 related disorders. This collaboration resulted in the publication of 9 per-reviewed research articles (total impact factor: 63). The mutual objectives of the ERMION partners are now : i) To have a strategy for developing common projects in the field of optic neuropathies, ii) To share expertise , iii) To promote new experimental approaches to the study of optic neuropathies, iv) To promote innovative therapeutic strategies and future clinical trials at the European level, v) To promote researcher exchanges between the different labs and vi) To maintain and reinforce the visibility of our European network

E-Rare 2012 - Created by Toussaint Biger