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.

The Netherlands
European Multidisciplinary Initiative on Neuroacanthocytosis – 2

Project Coordinator

Department of Neurology Division of Neurodegenerative Diseases Dresden University of Technology


Mario Mairhofer Obstetrics and Gynecology Medical University of Vienna Vienna Vienna, Austria
Merel Adjobo-Hermans Biochemistry Radboud University Nijmegen Medical Center Nijmegen Nijmegen, The Netherlands
Nicola Andrea Grzeschik Department of Cell Biology Section Radiation & Stress Cell Biology UMCG Groningen Groningen Groningen, The Netherlands
Pablo Blinder Neurobiology Ben-Gurion University Tel Aviv Tel Aviv, Israel

Neuroacanthocytosis (NA) syndromes are a group of rare disorders displaying neurodegeneration and misshaped spiky red blood cells (acanthocytes). NA syndromes include Chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington’s disease-like 2, and pantothenate kinase-associated neurodegeneration (PKAN) with ChAc as the prototype of this disease family. The European Multidisciplinary Initiative on Neuroacanthocytosis (EMINA-1) funded by the E-Rare-program 2009 provided detailed clinical characterization of the different NA syndromes and collected valuable brain and muscle tissue samples of ChAc patients.

Based on the successful EMINA-1 network, the EMINA-2 consortium brings together 5 Young Investigators from leading European laboratories (Austria, The Netherlands, Germany, Israel) in the fields of human cell models (induced pluripotent stem [iPS] cells), neurodegeneration, erythrocyte biology, as well as murine and Drosophila ChAc models with the aim to explore in depth the molecular pathophysiology of ChAc and translate this knowledge into new curative therapeutic approaches.

E-Rare 2012 - Created by Toussaint Biger