ORPHANET partnership

Each HCP is invited to collaborate with ORPHANET to create or update 3 entries of this European catalogue. Orphanet proposed a list of about 300 entries (some are syndromes, other isolated malformations). I propose that each HCP identifies for 2020 3 entries that it undertakes to update. A syndrome may be managed by 1 or 2 HCPs. We will do the same in 2021 and 2022. This will allow us to respond to the monitoring reports requested by the EC.

I propose 3 deadlines: one for each of the 3 entries you will choose to write:

– April 1, 2020

– July 1, 2020

– November 1, 2020

The procedure for submitting abstracts will be further clarified at the Düsseldorf meeting by our friends at ORPHANET, but should follow these lines:

  1. You select the syndromes and we send your choices to Orphanet;
  2. We plan a teleconference to plan the drafting and centralization of the exchanges (Orphanet will not be able to absorb the review of the syndromes at the same time);
  3. Orphanet sends the templates (pre-filled with texts to be updated (if already existing) and information from the database such as genes or epidemiological data.  All instructions for completing the document are included in the template;
  4. The ERN sends the completed and validated templates back to Orphanet, which checks compliance with the instructions and returns to the ERN if necessary.-
  5. Orphanet puts the texts online and updates the rest of the database if necessary
  6. Concerning the signature of the texts: the names of the experts who contributed will be kept at the bottom of the page and will be added at the same level either the name of the ERN or the logo.

I share on Google Sheet the list of about 300 entries. For each one, 2 HCPs can apply (if you have contributed to the original form – if it exists – you will obviously have priority to update it.) I will ask you to complete the Google form by November 22. Of course, you can also assign the work to a younger trainee in your staff.

Google sheet shortcut: https://docs.google.com/spreadsheets/d/102gisfusuZP9ot8UowE05yCIaihh9LqG3pkUPQhxltg/edit?usp=sharing

You can immediately begin to select your entries (max 2 HCP per entry, but keep this as a second choice)

[pdf-embedder url=”https://ern-ithaca.eu/wp-content/uploads/2019/10/Dusseldorf-board-previsional-program..pdf” title=”Dusseldorf board previsional program.”]

[pdf-embedder url=”https://ern-ithaca.eu/wp-content/uploads/2019/10/ERN-Newsletter-Oct-2019.pdf”]