Category: Past Events

Solve-RD Webinar: The Treatabolome Database

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 Database
  • 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)

Ataxia Global Conference 2022

Register for Ataxia Global Conference 2022!  It has a focus on trial-readiness for ataxia, bringing together representatives from research, clinics, industry as well as patient advocacy organizations. Our sessions cover cohort updates from different continents, clinical and patient-related outcomes, biomarkers and therapy development in ataxia and include an industry session.

When? 4-5 November 2022

Where? hybrid – Dallas, TX, USA and online

Register here.

(the last day for an early bird registration is 10 October 2022!)

4th TransplantChild workshop

The workshop will have a hybrid format. It will be hosted by Centro Hospitalar Universitário do Porto, Portugal, but participants will also be able to join on line, on Thursday, 27th October. The main aim is addressing the education and training activities currently available in the different centres of the ERN in order to elaborate a common training programme for paediatric transplantation in Europe, providing the trainees with the skills to perform a common and transversal approach to all types of paediatric transplantation procedures. Registration for the workshop is already open until Friday, 14th October at 23:55 CET.

Register here