Project MinE: A large scale whole-genome study in ALS (2014 - ...)
Aim: To sequence the genomes of 15.000 ALS patients and 7.500 healthy controls for defining all genetic variations giving rise to ALS.
Project Coordinator: UMC Utrecht, Prof. Jan Veldink
Wellcome Trust Project: Genetic Modifiers in repeat expansion disorders: Common Mechanisms and Therapeutics (2017 - ...)
Aim: To identify disease modifiers which would help to understand pathogenic mechanisms.
Project Coordinators: UCL Prof., Henry Houlden and Goethe Univ., Prof. Georg Auburger
Ontology-based Web Database for Understanding ALS: (2018 - ...)
Aim: To define specific risk factors taking into account the genotype-phenotype patient profiles and to build a database. The information on the possible risk factors will be analyzed to search for causal relationships between individual risk factors and ALS genotype-phenotype.
Project Coordinator: Univ. of Lisbon, Prof. Mamede de Carvalho (JPND)
PREPARE/Genesis: Bioinformatic Evaluation of NGS-Ataxia patients (2018 - ...)
Based on EU Consortium PREPARE (Preparing Therapies For Autosomal Recessive Ataxias) the aim is to find novel ataxia genes and run mutational burden analysis. The NGS files will be aggregated in a specific project within the NGS pipeline Genesis.
Project Coordinator: Hertie Inst. for Clinical Brain Research, Univ. of Tübingen, Dr. Matthis Synofzik
Horizon 2020 Application
SCA-FIGHTS: A collaborative effort including 7 European countries to understand Purkinje Cell degeneration in SCA2 by using omics data.
Project Coordinator: Erasmus Univ., Prof. Christopher I. de Zeeuw