Minutes of the third virtual meeting of the ESID genetics working party
Date: May 8th, 2023. 17:00 to 18:09 pm
Participants (please check if correct): Roger, Asbjörg, Guilaine, Andrés, Michele, Bodo, Mikko, Mike, Capucine, Anne, Mirjam, Achilleas, Marielle, Kairit, Klaus.
Apologies sent by (please check if correct): Sophie, Vassi, Kimberly, Mathiaos, Trine, Krista, Isabelle
Agenda:
List of ESID country representatives for the genetic work-up of IEI patients
List of functional testing for VUSes
Topics of the Genetics WP at the ESID Marseille meeting
Other projects
TOP1: The list of ESID country representatives for the genetic work-up of IEI patients The list is now posted on the ESID website: https://esid.org/Working-Parties/Genetics-Working-Party/Current-topics
The list is missing a couple of Email addresses
The list will be updated on a regular basis.
ACTION POINTS:
Bodo to correct/complete the Emails on the list
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.
ACTION POINT: All, please fill the Google document on functional testing by May 15th;
Asbjörg to add data from FUNKiS by May 15th
Bodo and Michele to amalgamate the lists thereafter.
Bodo to post the list online at the end of May 2023 on the ESID and the ERN-RITA websites.
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:
The following suggestions were made:
Social get-together in parallel (next door) to the ESID juniors get-together
Move the meetings of the ESID working parties into the middle of the day (e.g. a 2hr
lunch break)
Have a more educational session on IEI genetics at the educational day
Have an industry sponsored symposium on the genetics of IEI (Illumina, Pacbio,
Novogene, Nanopore, OGM etc)
Have a dedicated ESID session on surprising genetic findings and e.g. somatic
mutations in IEI, and e.g. an abstract subcategory “Genetics”
Suggested speakers to cover the genetic topic: Isabelle Meyts, Kimberly Gilmour, Roger Colobran, Yuval Itan, Marielle van Gijn, Bekim Sadikovic.
Invite speakers who can cover also the inflammatory diseases (Paul Brogan, Helen Lachmann, Seth Masters) and the evolving “monogenetic causes leading to allergy” field (Stuart Turvey, Josh Milner)
Additional topics to cover at ESID2024: collection of available databases, combination of DNAseq and methylation
Single cell omics technologies
Other omics and omics integration
Nanostring
Reverse phenotyping by methylation
Somatic mutations – David Beck or Megan Cooper
ACTION POINTS: Bodo to discuss these suggestions with the ESID board in May 2022 and organize the social get together.
TOP3: Other projects:
The description of our IEI phenotypes for databasing and genetic studies was discussed. HPO, ECHO (children hospital), and OMOP were discussed.
ACTION POINTS: Bodo to put on agenda of the next meeting.
Next meeting will be on Monday, July 10th 2023, at 5pm by ZOOM:
Proposed agenda:
Are we happy with the list of ESID country representatives for the genetic work-up of IEI patients? (All)
Are we happy with the list of functional testing for VUSes? (All)
Report on the outcome of the May ESID board meeting regarding the involvement of
the Genetics WP at the ESID 2024 meeting in Marseille (Bodo)
Other projects
Next meeting of the ESID genetics working party (4)
Uhrzeit: 10.Juli 2023 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
Zoom-Meeting beitreten
https://uni- freiburg.zoom.us/j/62627817491?pwd=WmJyRlF2bm82Q0h5U0M0OE8waDc5dz09
Meeting-ID: 626 2781 7491
Kenncode: AnKT9ScfS
Schnelleinwahl mobil +496971049922,,62627817491#,,,,*402282952# Deutschland +496950502596,,62627817491#,,,,*402282952# Deutschland
Einwahl nach aktuellem Standort +49 69 7104 9922 Deutschland
Asbjörg asked who is part of the https://gdi.onemilliongenomes.eu/ initiative.
Finland and Germany are/or will.
ACTION POINT: To present the one million genome project at the next meeting. Asbjörg?
+49 695 050 2596 Deutschland
Meeting-ID: 626 2781 7491
Kenncode: 402282952
Ortseinwahl suchen: https://uni-freiburg.zoom.us/u/ccvLdLJpz4
Über SIP beitreten
Über H.323 beitreten 213.244.140.110 (Deutschland) Kenncode: 402282952 Meeting-ID: 626 2781 7491
Protocol prepared by B. Grimbacher on May 18, 2023
