A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the genomic approach to hereditary diseases is of obvious interest to the patients themselves. A consortium of French geneticists sponsored by the FILNEMUS network has seized on the concept by applying it to myopathies.
- A list of 199 morbid genes previously identified as the cause of various neuromuscular pathologies served as the basis for the study.
- 63 of these genes were found to be “actionable” in the sense defined above.
- Of the 36 genes with the highest “actionability” score, only 8 had already been inventoried by the ClinGen database.
This work, which is always useful from a therapeutic perspective, also demonstrates the importance of entrusting the feeding of databases to experts in the field.
