(Coordinator: Olaf Riess, Tübingen, Germany, Co-coordinators: Gert-Jan van Ommen, Leiden, Netherlands and Brunhilde Wirth, Köln, Germany): an integrated European project on omics research in rare neuromuscular and neurodegenerative diseases.
Submitted under: HEALTH.2012.2.1.1-1-B: Clinical utility of -Omics for better diagnosis of rare diseases
The NEUROMICS work plan integrates a group of expert centres with five aims: (i) to unravel a large portion of still unknown genetic causes of ten categories of NDD and NMD using next-generation genomics approaches; (ii) to provide a diagnostic strategy to detect most genetic causes in clinical practice; (iii) to develop biomarkers which better describe phenotype and predict progression using transcriptomic, proteomic, metabolomic, and lipidomic technologies; (iv) to use Omics approaches for disease pathway elucidation in animal models, as well as on patient derived iPSC and other cell types; and (v) to utilize Omics-based results for stratified therapy development for NMD/NDD.
