Minutes of the second combined virtual meeting of the ESID genetics working party and the ERN molecular testing working group
Date: February 2nd, 2024. 16:00 to 17:18 pm
Participants: Kimberly, Karin, Gigliola, Juan, Jacques, Lennart, Tom, Roger, Guilaine, Andrés, Laura, Federica, Kaan, Helen, Janire, Marco, Natalja, Christophe, Joris, Janna, Isabelle, Capucine, Elisa, Julie, Bodo.
Apologies sent by: Matthaios, Mikko, Adela.
Agenda:
TOPIC1: Educational day at the ESID meeting 2024 in Marseille (Bodo)
TOPIC2: Genetic symposium at the ESID meeting 2024 in Marseille (Bodo)
TOPIC3: EPPerMed call of the European Union (Bodo)
TOPIC1: There will be a dedicated call by the ESID office to submit educative genetic case reports exclusively for the presentation at the educational day. This will be a separate submission, submission to the general abstracts at ESID2024 will not be considered for the educational day. The idea is to have a junior (presenting the case) partnered with a more senior mentor who will talk about the learning point of the case. 4-6 presentation are planned. Priority will be given to case reports in which novel genetic techniques have been deployed, extra minutes will be allocated to the presentation of the novel technology.
TOPIC2: In addition to this educational symposium, we wish to organize a (parallel) plenary industry-sponsored symposium on the topic of novel NGS technologies. Bodo has contacted with help of Klaus Schwarz, Anne Puel and Alexander Hoischen Pacbio, Bionano, and Element Biosciences. Responses are still pending.
There will also be the Genetics Working Party meeting at 7:30 in the morning.
It was previously (11/2023) decided that it is important to have presentations there on our functional testing activities (Bodo), guideline writing (Liz), HPO project (Marielle), and GenIA (Andrés).
TOPIC3: The “European Partnership for Personalized Medicine” (EP PerMed) has published a funding announcement entitled “Identification or Validation of Targets for Personalized Medicine Approaches (PMTargets)”. This funding announcement is intended to support transnational, interdisciplinary and trans-sectoral collaborative projects involving research teams from the countries participating in the funding announcement.
Background: The new European Partnership for Personalized Medicine (EP PerMed) was launched under the European Framework Programme Horizon Europe. The aim is to improve healthcare through personalized therapy, diagnosis and prevention.
On behalf of ERN-RITA and ESID, we intend to submit one or several project proposals on the topic “Validation of variants of unknown significance (VUS) for inborn errors of immunity (IEI)” or similar.
The application procedure has a two-stage structure.
The deadline for submission in the first stage is March 5, 2024, 17:00.
We acknowledge that the UK is not part of this call, however, we wish to include London and Newcastle into this initiative.
Post meeting note: 11 principle investigators voiced their interest in participation. 1-page proposals shall be written by Friday February 9th. A steering committee of 7 ESID/ERN members has been nominated (Isabelle, Kimberly, Guilaine, Marco, Joris, Kaan, Bodo). Bodo circulated a template and will propose a way forward on Sunday February 11th.
Next meeting will be on Thursday, March 21st 2024, at 5pm by ZOOM:
Thema: ESID/ERN genetics meeting
Zeit: 21.März 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
https://uni-freiburg.zoom.us/j/69170813547?pwd=eGk3RDZWRTQxanhld0wwVmVOdjZJZz09
Meeting-ID: 691 7081 3547
Kenncode: R27D3z2rC
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Meeting-ID: 691 7081 3547 Kenncode: 425086764
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Meeting-ID: 691 7081 3547 Kenncode: 425086764
Protocol prepared by B. Grimbacher and T. Sprang on February 5 and 6, 2024
