In the last two years, the Treatabolome project, a Solve-RD initiative, promoted the collection of evidence about gene and variant-specific treatments for rare diseases. The information, gathered by experts and published in systematic literature reviews, is now stored and accessible in the Treatabolome DB. Currently, the database includes up to 180 treatments associated with more than 1000 distinct variants – mainly for neuromuscular disorders. Records are completed with clinical information by using standard vocabularies such as HPO, Orphanet, OMIM, Mesh and Chebi. The project is open to new data submissions and collaborations.
This webinar is especially relevant for people involved in rare disease diagnostics & care (clinicians, geneticists, genetic counsellors, etc.). We will:
- provide an overview on the Treatabolome DB
- explain how to use the information
- show how to find a treatment for a specific genetic disease
- show how new data is being included and how you can contribute
Date: Friday, 18 November 2022, 2pm CET
Speakers: Sergi Beltran, Alberto Corvo, Leslie Matalonga (all CNAG-CRG)
