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

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

Date: September 11th, 2023. 17:00 to 17:55 pm

Participants: Asbjörg, Michele, Bodo, Kimberly, Lennart, Trine, Adela, Mike, Jonathan, Dr. Speletas, Mirjam, Tom, Natalja, Marielle, Capucine, Raffaele

Apologies sent by : Klaus, Vassilios, Anne, Sophie, Kaan, Andres, Isabelle, Krista

Agenda:

1. Introduction of new members of the ESID genetics WP

2. Discuss presentations of the ESID webinar on September 18th 2023

3. Asbjörg to present the one million genome project

4. Anne Puel to report on the preparations of the ESID 2024 meeting in Marseille

5. Marielle von Gijn to present updates on the HPO project

6. Any other business

TOP1: Introduction of new members of the ESID genetics WP
Introduction of Jonathan Bohlen (IMAGINE, Paris, speaker of the ESID-Genetics- Webinar)
Introduction of Tom Freiberger, Czech Republic
Introduction Natalija Kurjane, Riga, Latvia

TOP2: Discussion of the presentations for the ESID webinar on September 18th 2023

1. Introductory talk by Andrés Caballero 5 min. and Adele Chrita-Emandi 5 min. on the basic nomenclature of human genetics and the importance of re-analyzing datasets regularly.

2. Talk from Bodo Grimbacher: “The importance of careful phenotyping” 10 min.

3. Talk from Roger Colobran: “Novel phenotypes of known genes” 10 min.

4. Talk from Guilaine Boursier: “The problem of NEMO and NCF1” 10 min.

5. Talk from Kimberly Gilmour: “Expect the unexpected” 10 min.

6. Talk from Jonathan Bohlen: “Fancy genetics” 10 min.

Followed by a Q&A session

TOP3: Asbjörg to present the one million genome project:

https://digital-strategy.ec.europa.eu/en/policies/ 1-million-genomes
At a country level, the B1MG consortium includes partners and Governing Board members beyond the 1+MG signatories. It remains open to involve additional EU Member States and associated countries during the lifetime of the project.
1+MG

https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes

and B1MG

https://b1mg-project.eu/

There is a meeting today in Brussels in the steering committee of the 1+MG WG8-Rare Disorders.

TOP4: Anne Puel to report on the preparations of the ESID 2024 meeting in Marseille Anne was not on the call,
hence we postponed this topic for the next meeting of the ESID genetic working party in November.

TOP5: Marielle von Gijn to present updates on the HPO project
When Peter has moved to Berlin, there will be another face-to-face meeting. Marielle, please add as you wish.

TOP6: Any other business

Asbjörg and Marielle:
The UEMS ETR in Medical Genetics is under revision, the final draft is presented
here: https://drive.google.com/drive/folders/1Ip9pGOh4M-U04MtmRXskwuThHu84639F
Do you think the following IEIs are fundamental knowledge for specialists in Medical Genetics, or are there other disorders (name of the disorders) or groups of IEI disorders which should be included in stead or in addition?
3.22 Immunodeficiency, autoinflammatory/autoimmune disorders:
3.22.1 Primary immunodeficiencies
3.22.1.1 Severe combined immunodeficiencies
3.22.1.2 Congenital neutropaenias (cyclic or severe congenital neutropaenia, Shwachman-Diamond syndrome)
3.22.1.3 Agammaglobulinaemia (Bruton disease)
3.22.1.4 Chronic granulomatous disease
3.22.2 Autoinflammatory disorders
3.22.2.1 Familial Mediterranean fever
3.22.2.2 Other inflammasome-related disorders (CAPS, CINCA, Muckle-Wells syndrome)
3.22.2.3 Non inflammasome-related disorders (incl. TRAPS, Blau)
3.22.2.4 Interferonopathies
3.22.3 Other conditions
3.22.3.1 Hereditary angioedema
3.22.3.2 Autoimmune diseases
3.22.3.3 Paediatric rheumatic disease

Next meeting will be on Monday, November 20th 2023, at 5pm by ZOOM:

Proposed agenda:

1. Introduction of new members of the ESID genetics WP (sorry, I forgot this at the last meeting)

2. Report on the preparations of the ESID webinar in September 2023

3. Asbjörg to present the one million genome project

4. Anne Puel to report on the preparations of the ESID 2024 meeting in Marseille

5. Marielle von Gijn to present updates on the HPO project

6. Any other business?

Next meeting of the ESID genetics working party (6)
Uhrzeit: 20.Nov. 2023 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien

Zoom-Meeting beitreten

https://uni- freiburg.zoom.us/j/67436850408?pwd=amFIN0JCVTM3RGVNMTlId1dRd3BIZz09

Meeting-ID: 674 3685 0408 Kenncode: VQEgLA058 Schnelleinwahl mobil

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

Meeting-ID: 674 3685 0408
Kenncode: 806060160
Ortseinwahl suchen: https://uni-freiburg.zoom.us/u/cbID911E28

Über SIP beitreten

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Protocol prepared by B. Grimbacher on September 12, 2023