Minutes of the sixth combined virtual meeting of the ESID genetics working party and the ERN molecular testing working group

 Minutes of the sixth combined virtual meeting of the ESID genetics working party and the ERN molecular testing working group

Date: September 12th, 2024 at 4:30pm to 5:38pm

Participants: Trine Mogensen, Anne Puel, Caterina Cancrini, Gigliola di Matteo, Roger Colobran, Guilaine Boursier, Bart Uitterhaegen, Elisa Benetti, Krista Ress, Silvia Giliani, Capucine Piccard, Mirjam van der Burg, Jose Aroste, Luicia Pacillo, Adela Chirita-Emandi, Andres Caballero, Alessandro Aiuti, Matthaios Speletas, Sophie Hambleton, Giada Recchi, Bodo Grimbacher

Apologies sent by: Janna Saarela, Kimberly Gilmour, Isabelle Meyts, Mike Recher, Mikko Seppänen, Despina Moshous, Tomas Freiberger

1. Presentation by Bart Uitterhaegen from Utrecht“The new ERN RITA grant and the EC mandates for ERN RITA.”
   WP1 – Coordination
   WP2 – Dissemination
   WP3 – Evaluation
   WP4 – Healthcare and CPMS
   WP5 – Registries, data management and analysis
   WP6 – Training and Education; chair: Jordi Anton, Barcelona
               Mainly webinars, coordinator: Alexandre Belot, Lyon
   WP7 – Clinical Practice Guidelines and Clinical Decision Support systems
   WP8 – Capacity building and best Practice sharing for Ukraine healthcare units
   WP9 – Other activities for Ukrainian competent authorities
   ERDERA research project runs for 10 years
   In summary, there are several levels/workpackages to which we could contribute as the molecular testing working group.
   Please contact the respective ERN workpackage leader.
2. Presentations at the ESID meeting in Marseille in October (Bodo Grimbacher)
   The program can be viewed at: https://cslide.ctimeetingtech.com/esid24/attendee/confcal/session/calendar/2024-10-17
   There will be a rehearsal meeting for the talks at the educational day on the Wednesday the 25^th of September from 5-7 p.m.
   Bodo and Teresa will organize a second rehearsal meeting for the talks at the Genetics Working Party meeting on the Thursday morning.
   Post meeting note:
   Please be reminded of the dinner invitation on
   Wednesday October 16^th, at 8 pm
   La Table du 8ème,
   16 Av. de Mazargues,
   13008 Marseille
   For those who have not yet registered, please send an Email to Teresa: [email protected]

3.  Reports for the new ESID website (Bodo Grimbacher)
   Current demo website: https://esid.org/
   To our assessment, this website is still far from perfect.
   However, when it is live, we are asked to contribute to its content.
   Thank you to Italy and The Netherlands for submitting their first reports.

4. Report of the planned ERN meeting in Utrecht on October 7th/8th 2025 (Guilaine Boursier)
   Guilaine plans to present i) the database for functional testing, ii) the guideline writing project, iii) the HPO project, iv) report on the educational day at ESID, and v) offer a tutorial on how to interpret WES datasets.

5. Report on the upcoming HPO meeting with Peter Robinson in Berlin in November 2025 (Marielle van Gijn)
   In the absence of Marielle, Andrés reported on the planned HPO meeting in Berlin with Peter Robinson. We asked him to make sure at that meeting that there are not two activities in parallel, one from us and a second one from the US. 

6. Report on the progress on guideline writing (Liz Ralph)
   In the absence of Liz, Roger informed us on the recruitment of 2 new additional co-workers who are interested in helping to write these guidelines.
   Post meeting note: Giorgia Bucciol from Leuven, Belgium, will take over the lead.

7. Case presentation by Caterina and Gigliola: 13 y/o boy with recurrent severe infections and hypogammaglobulinemia. Variants in SH2D1A and CARMIL2. Variants in SH2D1A were shown to have a detrimental impact in SAP phosphorylation and 

8. AOB: Please submit as case presentation (Email to Bodo) for our next online meeting in November.

   Next meeting will be on Thursday, November 21th, 2024, at 5pm by ZOOM:
   Thema: ESID/ERN genetics meeting
   Provisional agenda:

   1. Report on the outcome of the EPPerMed call (Bodo)
   2. Feedback from the ESID meeting in Marseille (Bodo)
   3. Feedback from the ERN meeting in Utrecht (Guilaine)
   4. Report on the HPO Project (Marielle)
   5. Report on guideline writing (Giorgia)
   6. TACI manuscript presentation (Hassan or Bodo)
   7. Case presentation (NN)
   8. AOB (all)

   Thema: ESID/ERN genetics meeting
   Zeit: 21.Nov. 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien

   Zoom Meeting
   https://uni-freiburg.zoom.us/j/69562226500?pwd=SnMyNVFHRllQeFhvZ01ycmRTMXVHZz09
   Meeting-ID: 695 6222 6500
   Kenncode: sg6LuR4eK

   Protocol prepared by B. Grimbacher on Sept 14th, 2024