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.
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Project Coordinator
Partners
Daniel Kaganovich | Department of Cell and Developmental Biology Hebrew University of Jerusalem Jerusalem | Jerusalem, Israel |
Dineke Verbeek | Department of Genetics University of Groningen Groningen | Groningen, The Netherlands |
Luis Pereira de Almeida | Center for Neurosciences and Cell Biology of Coimbra University of Coimbra Coimbra | Coimbra, Portugal |
Thorsten Schmidt | Medical Genetics University of Tübingen Tübingen | Tübingen, Germany |
Machado-Joseph Disease (MJD, syn. spinocerebellar ataxia type 3; SCA3) is a rare autosomal dominantly inherited neurodegenerative disorder with progressive cerebellar ataxia. It is caused by an increase of CAG trinucleotid repeats resulting in an expanded polyglutamine (polyQ) repeat of ataxin-3 (ATXN3). Compelling evidence indicates that the proteolytic cleavage of ATXN3 leads to the formation of misfolded intermediates, which eventually accumulate to form nuclear aggregates. However, the exact mechanism of how mutated ATXN3 leads to neurodegeneration remains elusive. The PPPT-MJD consortium will combine induced pluripotent stem cell technology with state-of-the-art neurogenetics, biochemical studies, imaging and animal models. Key focus of the consortium is the process of aggregation of ATXN3, mechanisms of intracellular transport, modes of degradation and the identification of novel disease modifying factors.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France