Minutes of the fourth combined virtual meeting of the ESID genetics working party and the ERN molecular testing working group
Date: May 13th, 2024. 17:00 to 18:26 pm
Participants: Roger, Adela, Gigliola, Kimberly, Mike, Sandra, Lenovo, Tom, Kim, Capucine, Michele, Klaus, Mirjam, Despina, Caterina, Marielle, Tim, Trine, Isabelle, Giada, Guilaine, Anne, Cristina, Andrés, Bodo
Apologies sent by: Matthaios, Mikko,
Agenda:
The educational day at ESID2024 in Marseille (Bodo Grimbacher, Despina Moshous, and Capucine Piccard)
The genetics working party session at ESID2024 in Marseille (Bodo Grimbacher)
The genetics working party dinner at ESID2024 in Marseille (Bodo Grimbacher)
The molecular testing working group participation at the ERN general assembly in Utrecht 2024 (Guilaine Boursier)
UpdateontheGuidelinewritingproject(LizRalph)
UpdateontheHPOcodingproject(MariellevanGijn)
Update on the EMQN efforts (Roger Colobran)
Updating the ERN list of functional testing (Andrés Caballero)
Anyotherbusiness(all)
TOPIC1 and 2: Educational day and genetics WP meeting at the ESID meeting 2024 in Marseille (Bodo)
Following our last meeting in March 2024, several cases and topics have been submitted to Bodo. All suggestions were picked up and distributed between the educational day on the Wednesday and the genetics WP meeting on the Thursday morning, based on the focus of the case (educational vs. technological).
EDUCATIONAL DAY TOPIC 1: NCF1 – presented by Bonn and Hannover 10’+5’ EDUCATIONAL DAY TOPIC 2: ADA2 – presented by Genova 10’+5’ EDUCATIONAL DAY TOPIC 3: NFKB1 in cis – presented by Freiburg 10’+5’ EDUCATIONAL DAY TOPIC 4: Myotonic dystrophy type 1– presented by Timisoara 10’+5’
EDUCATIONAL DAY TOPIC 5: NEMO – 3 short speakers coordinated by Capucine 20’+10’
Genetics WP meeting TOPIC1: Artemis SCID – presented by Barcelona 10’+5’
Genetics WP meeting TOPIC2: Why was ARPC5 and RAG1 missed in WES? – Rome 10’+5’ Genetics WP meeting TOPIC3: Why was AICD and NCF1 missed in WES? – Freiburg 10’+5’
Every presentation needs to contain at least 3 question slides to the audience for making the session interactive. There will be an electronic voting system for the audience.
The slides for these presentations shall be sent to Bodo (ifi.esid.genetics@uniklinik- freiburg.de) and Despina Moshous ([email protected]) (co-chair of the ESID educational working party) by May 31, 2024.
There will be a first rehearsal session in June/July, and a second in September/October 2024.
TOPIC3: Bodo extended the dinner invitation to all ESID/ERN Genetics/Molecular Testing working party members. The dinner will take place:
Date and time: Wednesday, October 16 at 20:00
Location: La Table du 8ème, 16 Av. de Mazargues, 13008 Marseille
16 Av. de Mazargues, 13008 Marseille
TOPIC4: The next ERN-RITA members assembly meeting will take place in Utrecht on October 7th and 8th. The program is attached to these minutes.
Guilaine plans to participate and will come up with a program for the submeeting of the Molecular Testing working group. An important topic to potentially be discussed is the EU regulation of quality assurance in diagnostic assays.
TOPIC5: Guideline-writing (LIZ Ralph)
This topic was postponed, as Liz was not on the call.
TOPIC6: The HPO project (Marielle van Gijn)
Marielle was not sure about the funding of the planned face-to-face meeting with Peter Robinson in Berlin. Bodo will write to ESID and ERN-RITA to ask for the financial commitment.
Post meeting note: 9.000€ committed by ESID.
TOPIC7: EMQN quality assessment (Roger)
Roger reported on the currently ongoing EMQN quality scheme.
In 2025 there will still be the SCID scheme performed,
for 2026 there is a plan to broaden the scheme to a broad list of IEI genes.
TOPIC8: Functional testing list (Andrés)
Regarding the list of functional assays:
1) If you wanted to enter a new assay/test:
https://forms.gle/a99p5d99MZ3xkcWS8
(this is the google submission form for new tests, who some of you already know or tried) The form stores the entries in our google spreadsheet: https://docs.google.com/spreadsheets/d/1OU7hqcIpqHl3i0ZFhICbcbsg12avzLrB34uKc0thKc o/edit?usp=sharing
2) if you want to view or edit existing entries, this is the link to the initial file: https://docs.google.com/spreadsheets/d/1UjrCZ0t5m2OTwtw4JBPzMk30jgGIPXT5/edit?usp =sharing&ouid=104347308182541442561&rtpof=true&sd=true
3) However, from now on, I would suggest that people try the new forms that are available within GenIA’s curator’s interface to register their respective assays because those will be shown on the website immediately after they are entered. In case someone is interested, we can provide log in credentials or output a whole list/table with the info we currently have.
TOPIC9: Any other business (all)
(1) Bodo asks for contributions to the new ESID website which shall go online this
summer. He has prepared an example for the introduction of genetics diagnostics in Germany (attached to these minutes). Caterina Cancrini (Italy) and Marielle van Gijn and Mirjam van der Burg (The Netherlands) will provide an “introduction” of their countries’ activities for the second and third monthly posting.
(2) Catarina Cancrini suggested to dedicate the first 15 minutes of each future ESID genetics working party and the ERN molecular testing working group meeting to discuss scientific cases/challenges/methods. Bodo agreed and will shape the agenda accordingly.
Next meeting will be on Monday, July 8th, 2024, at 5pm by ZOOM:
Thema: ESID/ERN genetics meeting
Zeit: 8.Juli 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
Beitreten Zoom Meeting
https://uni-freiburg.zoom.us/j/63645138060?pwd=dWVoNjJxMzJCT05MMkRXOVpMcWFlUT09
Meeting-ID: 636 4513 8060
Kenncode: kDSbp4isB
—
Schnelleinwahl mobil +496950502596,,63645138060#,,,,*560660197# Deutschland +496971049922,,63645138060#,,,,*560660197# Deutschland —
Einwahl nach aktuellem Standort • +49 695 050 2596 Deutschland • +49 69 7104 9922 Deutschland
Meeting-ID: 636 4513 8060 Kenncode: 560660197
Ortseinwahl suchen: https://uni-freiburg.zoom.us/u/cbCZdwxh80 —
Über SIP beitreten
• [email protected]
—
Über H.323 beitreten
• 213.244.140.110 (Deutschland)
Meeting-ID: 636 4513 8060 Kenncode: 560660197
Protocol prepared by B. Grimbacher and T. Sprang between May 16 and May 17, 2024
