Department of Medical Genetics
Aix-Marseille University is one of the top 3 French universities and brings together the previous universities of Aix and Marseille. It employs 2700 researchers and lecturers. With over 100 research units and 1000 doctoral students, the University has an internationally recognised research capability, including the activities of the Medical School of ‘la Timone’.
Our unit, together with the Medical Genetics department, is specialized in molecular diagnostics of NMD/NDDs. In particular, we manage the larger dysferlinopathies database at the clinical, molecular and sample levels. Our unit is also a centre for clinical investigations and therapeutic trials. In addition, we also have strong expertise in knowledgebase systems (UMD) and prediction tools (UMD-Predictor, HSF).
Role within Neuromics
WP2 leader, involved in WP5 and WP9
Workpackage 6 - Diagnostic read outs for predicting disease modification
Workpackage 5 - Development and implementation of disease group overlapping NGS-based diagnostic panels
Workpackage 9 - Omics-assisted therapy development
Workpackage 2 - Identification of novel disease genes in NDD/NMD patients
Workpackage 8 - Bioinformatic tools for diagnostic prediction