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.

Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models

Project Coordinator

Institute of Human Genetics Technical University of Munich


Agnes Rötig INSERM U781 Insitut National de la Santé et de la Recherche Médicale Paris, France
Marc Muller GIGA-R, University of Liège Unit for Molecular Biology and Genetic Engineering Liège, Belgium
Massimo Zeviani Molecular Genetics Fondazione IRCCS, Instituto Neurologico Carlo Besta Milano, Italy
Simon Edvardson Department of Pediatrics Neuropediatrics Unit Hadassah Medical Center - Hebrew University Jerusalem Jerusalem, Israel
Wolfgang Sperl Department of Pediatrics Paracelsus Medical University Salzburger Landeskliniken (SALK) Salzburg, Austria

Publications of the GENOMIT project

Major results of the project

The objective of the project was the establishment of a Pan-European clinical network for mitochondrial disorders with the aim of harmonizing and linking local and national clinical data and patient samples for both existing and prospectively collected data and materials. Such a resource is a prerequisite for improvement of diagnostic procedures, which enable discovery of novel disease genes and deepen our knowledge of molecular mechanisms related to mitochondriopathies. As current advances in sequencing methodology rely heavily on large datasets of patients with rare disorders, sharing of biomaterials, phenotype and genotype data becomes critical. Collections of metadata, exchange of individual data, and common databases constitute complementary measures to be implemented in this field.

The project helped to create a European network for mitochondriopathies which provides a solid foundation for future global efforts. Common access to phenotype and genotype data enabled increasing success rates in solving genotype-phenotype relationships for mitochondriopathies. 34 novel disease genes were identified were mutations cause monogenic mitochondrial disorders. For numerous other genes which cause mitochondrial dysfunction when mutated, the phenotypic spectrum could be refined or enlarged. During the project new contacts to clinical and research groups outside the consortium were made which helped to increase registry input and fostered functional investigation. The discovery and deliniation of cofactors causaly involved in mitochondrial disorders led to therapeutic advances for specific monogenic entities of mitochondrial disorders.

E-Rare 2012 - Created by Toussaint Biger