WP 1: Novel diagnostic strategies and data science
Whole genome sequencing (WGS) have been established by several GENOMIC partners. However, even after WGS >40% of the analyzed MD cases remained without a molecular diagnosis. Our established multi-omics approaches helped to further increase the diagnostic rate up to 60%. Still, the multi-omics approach for the characterization of variant consequences faces some limitations, such as low-level somatic mutations, Pathogenic variants with reduced penetrance and polygenic risk factors, which will be addressed by this work package.
We will leverage the available data of multi-omics analysis and cell lines and follow three areas to further improve the diagnostic rates and advance our understanding of mitochondrial pathomechanisms to the benefit of as many MD patients as possible.
This work package is lead and coordinated by Klinikum rechts der Isar (IHG TUM-MED, Munich, Germany) and the Fondazione IRCCS Istituto Neurologico C. Besta (BESTA, Milan, Italy). The cooperating partner are Institute Imagine INSERM (Imagine, Paris, France), Consorcio Centro de Investigación Biomédica en Red (CIBER, Madrid, Spain), Friedrich-Baur-Institute of LMU Munich (LMU, Munich, Germany), The Neurological Institute of the University of Pisa (Pisa, Italy), Department of Informatics of TU Munich (TUM, Munich, Germany), Chiba Children’s Hospital (CCH, Chiba, Japan) and Medical School of Newcastle University (UNEW, Newcastle, Great Britain).
The patient organisation International Mito Patients (IMP, Zwolle, Netherlands) will support the patient recruitment and disseminate results to patients.
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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