Team 1 – Genomics and Physiopathology of Myocardial DiseasesFor more than 15 years, our group ( https://recherche-Cardiovascular-metabolique.fr ) has been involved in deciphering the genetic and cellular mechanisms of these diseases. We have recently identified the involvement of new genetic variants thanks to the study of the whole genome. This new knowledge allows us to better understand these diseases, to progress towards personalized medicine and to provide insight into new therapeutic approaches.Current research
- Identify the genetic factors involved in cardiomyopathies and channelopathies by new genomic approaches.
- Understand the function of these genetic factors through models of human cardiomyocytes (derived from iPS cells) and mouse models.
- Study the clinical impact of genetic testing and develop personalized medicine.
- Progress towards new therapies in monogenic or complex forms of heart failure and arrhythmias.
Research objectives
- THEME 1 – Genomics of heart failure related to dilated cardiomyopathy. E Villard, S Garnier, R Isnard, P Charron
- TOPIC 2 – Genomic analysis of cardiac repolarization in response to drugs. JE Salem, C Funck-Brentano
- THEME 3 – From deciphering the genetic determinants of ventricular arrhythmia to therapeutic applications. N Neyroud, F Extramiana, A Leenhardt, P Guicheney
- THEME 4 – Identifying new physiological pathways in arrhythmogenic right ventricular cardiomyopathy using innovative human cell models. E Gandjbakhch, E Villard
- THEME 5 – Translational impact of genetic testing on precision medicine. P Richard, V Fressart, E Gandjbakhch, P Charron
Major Publications21/05/2021Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.2311/02/2021Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control25/01/2021Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect07/08/2020ESC EORP Cardiomyopathy Registry: real-life practice of genetic counseling and testing in adult cardiomyopathy patients27/03/2020The Public Health Burden of Cardiomyopathies: Insights from a Nationwide Inpatient Study01/02/2020Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress13/08/2020Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights From Genetic Testing24/09/2019Androgenic Effects on Ventricular Repolarization: A Translational Study From the International Pharmacovigilance Database to iPSC-Cardiomyocytes27/12/2018Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity21/02/2019External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers03/07/2018Hypogonadism as a Reversible Cause of Torsades de Pointes in Men02/10/2018An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation14/02/2020Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy02/08/2017Contribution of exome sequencing for genetic diagnosis in arrhythmogenic right ventricular cardiomyopathy/dysplasiaAsymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunctionMembers of the teamF. Lethimonnier (INSERM)PUPH, team leaderDr Pascale GuicheneyDR INSERM (emeritus)Dr Nathalie NeyroudCR INSERMDr. Eric VillardIR AP-HPDr. Sophie GarnierMCU-UPMCDr. Ewa NinioDR INSERM (emeritus)Pr Estelle GandjbakhchPUPHProfessor Funck-BrentanoPUPHProfessor Richard IsnardPUPHDr. Pascale RichardpHPr Fabrice ExtramianaPUPHProfessor Antoine LeenhardtPUPHDr. Joe-Elie SalemMCU-PHDr Isabelle DenjoypHDr Françoise Hidden-LucetpHDr Veronique FressartpHDr Noel ZahrpHDr. Flavie AderAHU & PhD studentDr. Carole MaupainCHPDr. Pierre Bobinpost-docVincent FontaineClaire PerretClaire PerretIRArnaud LeclerqTCHMarie Gizondoctoral studentOceane PiedalluPhD studentFind out more
