Research project - Resolving the diagnostic deadlock in cardiomyopathies

The project focuses on the reanalysis of sequencing data to discover new variants associated with cardiomyopathies, conditions burdened with significant morbidity and mortality. These variants may be structural (copy number variation, translocation, nucleotide expansion, etc.), regulatory, splicing-related, or single nucleotide variants (synonymous or loss-of-function), whether located in coding or non-coding regions of the genome. These variants result from mechanisms that are still poorly studied, and their investigation using genomic data will be conducted: i) with existing detection tools, and ii) by developing new approaches based on artificial intelligence.
This project is part of the ResDiCard study (resolving the diagnostic deadlock in cardiomyopathies), a winner of the 2020 AVIESAN PIA Rare Diseases call for projects (kick-off meeting 31/08/21). The project, which involves the reuse of PFMG data, brings together the Inserm/Sorbonne University joint unit UMRS_1166, the Clinical Bioinformatics Laboratory at the Imagine Institute, the University Medical Center of Utrecht (Netherlands), and the national reference center for rare or hereditary cardiac diseases (coordinator: CHU Pitié-Salpêtrière). The project leader is also the coordinator of the relevant PFMG pre-indication (familial cardiomyopathies).

The project benefits from the complementary expertise already established within this consortium as well as bioresources and patient collections already assembled or nearing completion. The project is conducted in regulatory compliance (ethics committee, CNIL). Patients will be asked for non-opposition to the use of their data/samples. The project aims to advance knowledge of the genetic determinants of cardiomyopathies, whether through new genes, novel mechanisms, or new strategies, with direct translational applications to improve the care of these patients.