ERA-Net E-Rare

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.