Participants: Kimberly, Adela, Trine, Michele, Anne, Caterina, Mike, Ime, Gigliola, Isabelle, Dorota, Kairit, Gabriella, Bodo
Apologies sent by: Mirjam, Lennart, Roger, Matthaios, Klaus, Sophie, Janna, Tom
TOPIC 1: ESID meeting in Marseille 2024
Our working party is asked to organize two sessions, 90 min of the educational day on Wednesday, and 45 min of the Genetics WP session on Thursday morning.
Here is the planned agenda:
General Titel Educational Day:
„Challenges in assigning the correct genetic diagnosis”
EDUCATIONAL DAY CASE 1: presented by Tuba and Sandra 10’+5’
EDUCATIONAL DAY CASE 2: presented by ? Marco 10’+5’
EDUCATIONAL DAY CASE 3: presented by Sara and Bodo 10’+5’
EDUCATIONAL DAY CASE 4: presented by Adela 10’+5’
EDUCATIONAL DAY CASE 5: three short speakers coordinated by Capucine and others 20’+10’
We plan a second rehearsal for the talks at the educational day in September 2024.
Anne Puel, Trine Mogensen, Clara Franco-Javara, and Despina Moshous shall be invited to participate at this session too.
Genetics WP meeting:
Genetics WP meeting TOPIC1: Artemis SCID – presented by Roger 10’+5’
Genetics WP meeting TOPIC2: Why was ARPC5 and RAG1 missed in WES? – presented by ? Caterina? 10’+5’
Genetics WP meeting TOPIC3: Why was AICD and NCF1 missed in WES? – presented by Michele and Andrés 10’+5’
TOPIC 2: New ESID website
This Mega-Project is still ongoing. A test website is available. It shall go online before the coming ESID meeting.
All: We are asked to draft contributions to this website, e.g. how the genetic testing in your country is organized.
Example: see https://esid.org/working-parties/genetics-working-party/news-events/
TOPIC 3: Functional VUS testing
Our joint EPPerMed application was unfortunately not selected to get to the second round.
Update of website is ongoing.
Andrés to report at next meeting.
TOPIC 4: HPO meeting in Berlin
A meeting with Peter Robinson is planned for November 2024 by Marielle van Gijn.
ESID will put in some funding.
Marielle to report at next meeting.
TOPIC 5: Guideline writing
Kimberly reports, that Liz will likely start with the Delphi process in September 2024.
Liz to report at next meeting.
TOPIC 6: I forgot to introduce new team members, Dorota please apologize! I will introduce you next time around.
Bodo to introduce Dorota and others at next meeting.
Next meeting will be on Thursday, September 12th, 2024, at 5pm by ZOOM:
Thema: ESID/ERN genetics meeting
Zeit: 12.Sept. 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
https://uni-freiburg.zoom.us/j/62286669658?pwd=MEJFRWc2dURwaEZtbmhLWUM1UnJRZz09
Meeting-ID: 622 8666 9658
Kenncode: CxqV2Enb1
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Meeting-ID: 622 8666 9658
Kenncode: 442183056
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Meeting-ID: 622 8666 9658
Kenncode: 442183056
Protocol prepared by B. Grimbacher and T. Sprang
