The GEN-RAR project: searching for rare genetic etiologies in patients with dilated cardiomyopathies or arrhythmias
Context
- Dilated Cardiomyopathy (DCM) is a disease of the heart muscle (myocardium) that affects approximately 1 in 2,500 people in the general population, particularly adolescents and young adults.
- The diagnostic yield of searching for a genetic cause of dilated cardiomyopathy using currently available panels is estimated at less than 20%. Some rare genetic causes are not systematically investigated, but only according to the clinical presentation.
- We therefore propose to search for rare genetic causes in patients with DCM or arrhythmias with no genetic cause identified, such as Steinert myotonic dystrophy, Becker muscular dystrophy, or mitochondrial diseases.
- The hypothesis is that suspicion of these diseases may have been missed when they have late onset or few symptoms, and that they are therefore underestimated. If we identify new genes responsible for DCM via exome sequencing, these could be included in gene panels.
Project objectives
- Search for Steinert myotonic dystrophy in patients with DCM or an arrhythmia with no genetic cause identified,
- Search for rare genetic causes in patients with DCM with no genetic cause identified.
Patient benefits
- Improve the diagnosis of Dilated Cardiomyopathy
- Tailor the management of DCM
Study duration
- 5 years
Overall budget
€146,000
Project leads
Dr Alexis HERMIDA (Arrhythmology Unit, IHU ICAN, Pitié-Salpêtrière Hospital)
Prof. Estelle GANDJBAKHCH (Arrhythmology Unit, INSERM 1166, IHU ICAN, Pitié-Salpêtrière Hospital)
Dr Flavie ADER (Metabolic Biochemistry Department, Pitié-Salpêtrière Hospital)
Dr Guillaume JEDRASZAK (Clinical Genetics Unit, Amiens University Hospital)
Votre soutien est essentiel pour accélérer la recherche !
Pour en savoir plus, votre contact privilégié :
Francine Trocmé
Direction communication et mécénat
06 81 64 97 88 – f.trocme@ihuican.org
