Project: Advancing the European Multidisciplinary Initiative on Neuroacanthocytosis – EMINA-2: Dissecting the molecular pathophysiology of Chorea-Acanthocytosis

Faulty energy supply due to defective oxidative phosphorylation, OXPHOS, is the biochemical signature of mitochondrial disorders a genetically heterogenous group of rare, severe and highly invalidating human conditions for which no effective treatment is available. GENOMIT is a network of six partners in Germany, Italy, France, Israel, Austria and Belgium that will contribute to improve the diagnosis and care of patients with mitochondrial disorders in Europe. This goal will be accomplished by implementing the following four actions. First, to create the largest European repository of databases and biomaterials from patients with mitochondrial disease, by harmonizing and connecting suitable local resources available by each partner. Second, to develop new diagnostic protocols based on next generation sequencing techniques that will be applied to shared sample collections. Third, to extend functional studies of genes and pathways involved in the pathophysiology of mitochondriopathies. Fourth, to test new therapeutic options by improving the range of and the access to animal disease models. The GENOMIT partners are national hubs for the diagnosis and care of patients with mitochondriopathies, but each of them has also developed unique expertise that will be shared synergistically within the network. GENOMIT will thus create the critical mass to expand knowledge on the natural history, and genotype-phenotype correlation of mitochondrial disease in Europe, and to gain insight on in vivo models, thus providing the basis for better treatment.

Acronym	EMINA-2
Duration	01/01/2013 - 31/12/2015
Project Topic	4th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2012) (Driven by young investigators)
Network	E-Rare-2
Call	4th Joint Call for European Research Projects on Rare Diseases driven by Young Investigators

Project partner

Number	Name	Role	Country
1	Dresden University of Technology	Coordinator	Germany
2	Ben-Gurion University, Israel	Partner	Israel
3	UMCG Groningen	Partner	Netherlands
4	Radboud University Nijmegen Medical Centre	Partner	Netherlands
5	Medical University of Vienna	Partner	Austria