Minutes of the fourth virtual meeting of the ESID genetics working party
Date: July 10th, 2023. 17:00 to 17:51 pm
Participants: Roger, Asbjörg, Guilaine, Andrés, Michele, Bodo, Kairit, Klaus, Kimberly, Lennart, Isabelle, Trine, Krista, Adela.
Apologies sent by: Sophie, Matthaios, Achilles, Mike, Asbjørg, Anne
Agenda:
List of functional testing for VUSes
ESID webinar or genetic testing in September 2023
Topics of the Genetics WP at the ESID Marseille meeting
IEI/PID guideline writing
Other projects?
TOP1: Michele presented the collection of laboratories offering functional testing for VUS’es. This has yielded approximately 275 entries. It is currently an Excel spreadsheet which will be posted on the ESID website asap. It will also be posted on the ERN-RITA website.
It was agreed that constant updating is necessary.
Bodo offered to do so on a 6-monthly basis.
To this end he will need the Email addresses of the respective heads of the laboratories. ACTION POINTS: Bodo to post the Spreadsheet on the ESID website. Bodo, Teresa and Michele to collect these Email addresses. Bodo to ask for an update of this list by December 31st, 2023.
TOP2: We have been invited by Siobhán Burns and the ESID board to organize the ESID webinar in September 2023. Possible topics and speakers were discussed.
We agreed on the following:
One introductory talk by Andrés and Adele on the basic nomenclature of human genetics and the importance of re-analyzing datasets regularly.
One talk from Isabelle on the importance of careful phenotyping/communication phenotypes with an example of DADA2.
One talk from Roger on sorry, I forgot
One talk from Guilaine on the problem of NEMO and NCF1 etc…
One talk from Kimberly: “Expect the unexpected”
Possibly a short talk on “fancy genetics” (e.g. 2 missense mutations in cis, mentioning uniparental disomy, mention issue of somatic mosaicism etc…) by e.g. Bodo
ACTION POINT: Presenters to prepare a 10 (!) minute talk. Not more, we only have 60 min!
TOP3: Face-to-face meeting of the ESID genetics working party in Marseille in 2024.
There is still much to do for the meeting in Marseille.
As Anne Puel, the main organizer of the ESID2024 conference, is not on the call, Bodo suggests to circulate the suggestions he has made to her and the local steering committee for topics and talks. Then members of the Genetics WP can make additional suggestions. ACTION POINTS: Bodo to circulate the document he has sent to Anne within the Genetics WP (actually attached to these minutes). ALL: please add to these suggestions!
TOP4: PID/IEI guideline writing
Isabelle Meyts and Kimberly Gilmore might have individuals/co-workers who may be interested in first-authoring a guideline paper on genetic testing for IEI in Europe. Siobhán Burns from the Clinical WP has secured funds from the ERN to do so.
ACTION POINT: Isabelle Meyts and Kimberly Gilmore to communicate to the group whether these individuals are interested to take on the task. An example how the autoinflammatory group has done this, is attached.
TOP5: Other projects: None.
Sorry, I forgot the following:
Asbjörg asked at our last meeting who is part of the https://gdi.onemilliongenomes.eu/ initiative. Finland and Germany are/or will.
ACTION POINT: Asbjörg, ok to present the one million genome project at the next meeting?
Sophie Hambleton could not participate but wrote: Happy to contribute to the guideline writing. Regarding speakers for Marseille I suggest there is a lot of interest in disease related to somatic variants – Megan Cooper, David Beck, Frederic Rieux-Laucat
Next meeting will be on Monday, September 11th 2023, at 5pm by ZOOM:
Proposed agenda:
Introduction of new members of the ESID genetics WP (sorry, I forgot this at the last meeting)
Report on the preparations of the ESID webinar in September 2023
Asbjörg to present the one million genome project
Anne Puel to report on the preparations of the ESID 2024 meeting in Marseille
Marielle von Gijn to present updates on the HPO project
Any other business?
Thema: ESID genetics working party (5)
Uhrzeit: 11.Sept. 2023 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
Zoom-Meeting beitreten
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Protocol prepared by B. Grimbacher on July 10, 2023
