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

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

Date: March 21st, 2024. 17:00 to 17:36 pm

Participants: Kimberly, Mikko, Trine, Roger, Elisa, Cristina, Guilaine, Andrés, Janna, Capucine, Adela, Kim, Christophe, Gigliola, Juan, Bodo.

Apologies sent by: Marielle, Tom, Mike, Asbjørg, Natalja, Vassilios, Caterina, Matthaios

Agenda:
TOPIC1: EPPerMed call of the European Union (Bodo)
TOPIC2: Educational day at the ESID meeting 2024 in Marseille (Bodo) TOPIC3: Genetic symposium at the ESID meeting 2024 in Marseille (Bodo) TOPIC4: Guideline-writing (Kimberly)
TOPIC5: EMQN quality assessment (Roger)
TOPIC6: Any other business (all)

TOPIC1: EPPerMed call of the European Union (Bodo)
Bodo is aware of four consortia out of more than 500 who have submitted a proposal to the EPPerMed call. Two of the four stem from our groups: One headed by Isabelle Meyts (Leuven) termed IMMUNOtarget and one headed by Michele Proietti (Hannover) called TargetVUS4PM. There are additional consortia headed by Esteban Ballestar (Barcelona) and Helen Leavis (Utrecht). If successful, full proposals need to be prepared in June. We keep fingers crossed.

TOPIC2: Educational day at the ESID meeting 2024 in Marseille (Bodo)
The ESID educational WP has decided to run a 90 min session on the genetics of IEI during the educational day in Marseille. We (the ESID genetics WP and the ERN-RITA molecular testing working group) shall come up with teaching cases and accompanying teaching lectures by mentors.
The following cases were proposed:

1. EDA, ENDAS, NEMO, responsible person: Capucine

2. Usefulness of WGS/OGM following unsuccessful WES, several cases, responsible

   person: Bodo

3. Artemis SCID detected by NBS, responsible person: Roger

4. NFKB1-HI due to compound het mutations in cis, responsible person: Bodo

5. P47/NCF1, Bodo to contact Taco

6. SP1 gene?

TOPIC3: Genetic symposium at the ESID meeting 2024 in Marseille (Bodo)
The efforts to organize a dedicated genetics symposium as a plenary or parallel symposium was not heard by the scientific organizing committee of the ESID Marseille 2024 meeting. Also, our subsequent efforts to organize an industry-sponsored symposium were so far unsuccessful as the prize of such a symposium is very high (80.000€) and we were not able to identify four companies coughing up 20.000€ each. To our knowledge, Novogene is interested in having a stand, and with PacBio we are still in discussions how to make their participation at ESID2024 possible.

TOPIC4: Guideline-writing (Kimberly)
Liz Ralph (GOSH/UCL London) has had volunteers from across the ESID/ERN-RITA community and a virtual meeting is planned for end of April 2024.

TOPIC5: EMQN quality assessment (Roger)
Roger reported on the currently ongoing EMQN quality scheme 2024 which is again exclusively on SCID. The team of this EMQN SCID 2024 is composed by Annet Simmons (Radboud University Medical Center, Netherlands), Lore Pottie (Ghent University, Belgium) and Roger Colobran (Hospital Universitari Vall d’Hebron, Barcelona, Catalonia).
For the years to come it is planned to expand the scheme to a more inclusive IEI panel. The genes to be included in this IEI panel will be discussed in due time.

TOPIC6: Any other business (all) None.

Next meeting will be on Monday, May 13th, 2024, at 5pm by ZOOM:

Thema: ESID/ERN genetics meeting
Zeit: 13.Mai 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien

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Meeting-ID: 653 3956 6352 Kenncode: 464260968

Protocol prepared by B. Grimbacher, K. Gilmour, R. Colobran, and T. Sprang between March 24 and April 6, 2024