EJP RD ERN Workshop: Functional exploration of genetic variants in cardiac diseases

Concept
Cardiomyopathies and channelopathies are severe and misunderstood diseases that affect
millions of patients worldwide. More than a thousand pathogenic variants have been
identified in numerous genes, indicating that diverse molecules and pathways cause these
diseases. These pathogenic variants are often ‘private’, i.e. family specific. Genotype
interpretation is still challenging in the surge of so-called variants of uncertain significance.
The exploration of the genetic characteristics of an individual is an essential step to allow the
precise identification of patients at risk of sudden death by risk of arrhythmia or cardiac
deterioration. The discovery of the mechanisms leading to fibrillatory and degenerative
processes is able to identify new molecular therapeutic targets.

Aim
Presentation of functional explorations of the variants of interest identified using the
Drosophila, C.elegans, Zebrafish and iPSc models to understand the molecular bases of
genetic diseases, in particular heart and muscle diseases.

Cardiologist, molecular biologist, post docs, medical fellows, PhD students
The approximate number of participants is 30.

Interactive presentations and discussions

To register please fill until 20 May 2022 the application form here.

The training workshop is free of charge.

Affiliated to an ERN-Full Member or Affiliated Partner institution.

The organizer together with one member of the WP17 Scientific Evaluation Committee will
select the most appropriate workshop participants based on their experience in the field.
All registered participants will be informed if they are selected to attend this training
course by 9. May 2022.

At the end of the training workshop a Certificate of Attendance will be sent to the participants who attended the entire workshop.
No credits of Continuing Education in Medicine will be issued.

The workshop will run in English.

To be determined.

If you have specific questions, please write to the workshop organizer:
philippe.chevalier@chu-lyon.fr

Questions related to organization of travelling hotel, dinner should be addressed to:
elodie.morel01@chu-lyon.fr

For general inquiries about the workshops in the ERN RD Support and Training Program
please write to:
Sanja.hermanns@ejprd-project.eu
RareEndoERN@lumc.nl

See the programme here.