WP 2: MD-specific episignatures and metabolic profiles
Disease-specific metabolic and, most recently, epigenetic signatures are established to initiate genetic testing or validate genetic findings. GENOMIT aims to facilitate and prompt clinical trials for improved disease management approaches by establishing specific outcome measures and identifying novel therapeutic targets. Each new biomarker will also provide novel insights into the pathophysiology of the underlying disorder.
This WP will leverage potentially the largest collection of MD patient biosamples, laboratory measurements and clinical data (phenotyping, disease endpoints, PROMs, and treatment information) to search for biomarkers using genome-wide DNA methylation profiling and high-throughput metabolomics and lipidomics data.
This work package is lead and coordinated by Consorcio Centro de Investigación Biomédica en Red (CIBER, Madrid, Spain) and Western University (WU, London, Canada). Cooperating partners of WP 2 are Luxembourg Centre für Systems Biomedicine (LCSB, Luxembourg), Klinikum rechts der Isar (IHG TUM-MED, Munich, Germany) and all those of WP1.
This work was performed on behalf of the GENOMIT Consortium and funded under the E-Rare Programm 2015 and the European Joint Programmes on Rare Diseases (EJP RD) 2020 and 2023
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