Minutes of the second virtual meeting of the ESID genetics working party

The list will be updated on a regular basis.

Since the last update a couple of weeks ago, 2 new volunteers are missing.

The suggestion came up if ESID should not advertise for the JMF genetic testing program. The suggestion was made that the genetics WP should advertise this at the ESID meetings.

ACTION POINTS:
Bodo to communicate the update to Iliyana, the ESID website host.
Bodo to contact JMF to ask for their approval to advertise their program via the ESID channels.

TOP2: The list of functional genomic testing is a current Excel spreadsheet on Googledocs: https://drive.google.com/drive/folders/17OB7wVp4T1BfGdAtiPgw3Wf9TKIiicbZ?usp=share_ link
It is currently being filled by whatever lab wishes to add their functional test of IEI genes to the list. Please fill in all columns of the list, especially whether your test has been accredited or not.

This topic links directly to the question how to make the results of these functional tests available to the community. To this end the GenIA database may be a good solution, as we (Michele and Andres) are the developers of this database and can shape it according to our needs.

https://www.geniadb.net/app/home/index.php

Wish list:
– include not only published data but also unpublished data

• –  Include also data on variants which were tested benign

• –  The inclusion of variants classified as VUS without any functional test available was

  discussed controversial, as these could also be found in other databases –

  ACTION POINT: All, please fill the Google document on functional testing

TOP3: Face-to-face meeting of the ESID genetics working party in Marseille in 2024.
It was agreed that asking ESID participants to come one day earlier to the ESID meeting in Marseille for an extra day of the Genetics WP will not work as this is a 5-day meeting already.
There were lots of suggestions of how the Genetics WP can contribute to a successful meeting in Marseille in 2024.
We settled on following initiatives:

1. Social get-together in parallel (next door) to the ESID juniors get-together

2. Move the meetings of the ESID working parties into the middle of the day (e.g. a 2hr

   lunch break)

3. Have a more educational session on IEI genetics at the educational day

4. Have an industry sponsored symposium on the genetics of IEI (Illumina, Pacbio,

   Novogene etc)

5. Have a dedicated ESID session on surprising genetic findings and e.g. somatic

   mutations in IEI, and e.g. an abstract subcategory “Genetics”

6. Invite speakers who can cover also the inflammatory diseases (Paul Brogan, Helen

   Lachmann, etc) and the evolving “monogenetic causes leading to allergy” field

ACTION POINTS: Bodo to discuss these suggestions with the ESID board in May 2022 and organize the social get together.
Klaus to circulate the review on monogenetic causes for allergy
Post meeting question: do you think we can get an ESID Genetics WP Volleyball team together and challenge the ESID juniors WP in a beach volleyball ralley or something?

Next meeting will be on Monday 8th May 2023 at 5pm by ZOOM:

Thema: ESID genetics working party (3)
Uhrzeit: 8.Mai 2023 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien

Zoom-Meeting beitreten

https://uni- freiburg.zoom.us/j/62070132269?pwd=aWNwNXk5NVlSK1FwV25SRGtIY1NtQT09

Meeting-ID: 620 7013 2269
Kenncode: RChV1tHZb
Schnelleinwahl mobil +496971049922,,62070132269#,,,,*868264828# Deutschland +496950502596,,62070132269#,,,,*868264828# Deutschland

Einwahl nach aktuellem Standort +49 69 7104 9922 Deutschland +49 695 050 2596 Deutschland

Meeting-ID: 620 7013 2269
Kenncode: 868264828
Ortseinwahl suchen: https://uni-freiburg.zoom.us/u/cCYkYkHKn

Über SIP beitreten [email protected]

Über H.323 beitreten 213.244.140.110 (Deutschland)

Kenncode: 868264828 Meeting-ID: 620 7013 2269

Further dates of the Genetics Working Party ZOOM meetings will be on:

Thursday, 30.3.23, 5pm Monday, 08.05.23, 5pm Monday, 10.07.23, 5pm Thursday, 14.09.23, 5pm Wednesday, 22.11.23, 5pm

Protocol prepared by B. Grimbacher on March 30, 2023