Genetics Working Party

Current topics

Please, find here a list to countries which seem to be well served with regard to the provision of a genetic diagnosis:

ESID country

Genetic testing available to all patients of this country with a suspicion of IEI, free of charge for the patient

Albania

unknown, please contact [email protected] if you have this information

Andorra

unknown, please contact [email protected] if you have this information

Austria

unknown, ESID contact person: Kaan Boztug

Belarus

unknown, please contact [email protected] if you have this information

Belgium

yes, ESID contact person: Isabelle Meyts at <[email protected]>

Bosnia

unknown, please contact [email protected] if you have this information

Bulgaria

unknown, please contact [email protected] if you have this information

Croatia

unknown, please contact [email protected] if you have this information

Czech Republic

yes, via geneticist, ESID contact person: [email protected]

Denmark

yes, ESID contact person: Trine Mogensen at <[email protected]>

Estonia

yes, please contact: Kairit Joost at <[email protected]> or Krista Ress at <[email protected]>

Finland

yes, ESID contact person: Mikko Seppänen  <[email protected]>

France

yes, ESID contact person:Guilaine Boursier, Anne Puel at <[email protected]>, or Capucine Picard <[email protected]>

Germany

yes, ESID contact person: Klaus Schwarz 

Greece

no, contact person: Matthaios Speletas

Hungary

unknown, please contact [email protected] if you have this information

Iceland

unknown, please contact [email protected] if you have this information

Ireland

unknown, please contact [email protected] if you have this information

Israel 

unknown, please contact [email protected] if you have this information

Italy

yes, ESID contact persons: Vassilios Lougaris at <[email protected]> and Raffaele Badolato at  <[email protected]>

Latvia

unknown, please contact [email protected] if you have this information

Lichtenstein

unknown, please contact [email protected] if you have this information

Lithuania

unknown, please contact [email protected] if you have this information

Luxembourg

unknown, please contact [email protected] if you have this information

Macedonia

unknown, please contact [email protected] if you have this information

Malta

unknown, please contact [email protected] if you have this information

Moldavia

unknown, please contact [email protected] if you have this information

Monaco

unknown, please contact [email protected] if you have this information

Montenegro

unknown, please contact [email protected] if you have this information

Netherlands

yes, ESID contact persons: Mirjam van der Burg and Marielle van Gijn

Norway

yes, ESID contact person: Asbjørg Stray-Pedersen <[email protected]>

Poland

unknown, please contact [email protected] if you have this information

Portugal

yes, ESID contact person: Joao Pedro Marques Farela Neves <[email protected]>

Republic of Cyprus

unknown, please contact [email protected] if you have this information

Romania

yes, please contact Adela Chirita-Emandi at  <[email protected]> for further information

Russia

unknown, please contact [email protected] if you have this information

Serbia

unknown, please contact [email protected] if you have this information

Slovakia

unknown, please contact [email protected] if you have this information

Slovenia

unknown, please contact [email protected] if you have this information

Spain

yes, ESID contact person: Roger Colobran at [email protected] 

Sweden

yes, please contact Lennart Hammarström  <[email protected]
or Kim Ramme <[email protected]>

Switzerland

yes, ESID contact person: Mike Recher at <[email protected]>

Turkey

unknown, please contact [email protected] if you have this information

Ukraine

unknown, please contact [email protected] if you have this information

United Kingdom

yes, ESID contact persons: Sophie Hambleton at <[email protected]> or Kimberly Gilmour <[email protected]>

Representatives of the following countries stated that in general a provision of a genetic diagnosis is not a critical problem in their country: Finland, Italy, Switzerland, France, Germany, Spain, UK, Norway, The Netherlands.

In Greece, however, there seem to be funding issues.

Please write to   to learn more about how to contribute to the collaborative alliance against VUS’es.

Report from the first meeting of the ESID genetics working party:

Issues which were raised at the first meeting of the ESID genetics working party:

  1. Interaction with the ESID Registry working party as we wish to document our genetic findings into the ESID registry, but currently there are e.g. genes missing etc…
  2. Write a guidance document of best practice for molecular/genetic diagnosis in IEI and generate evidence for the justification of doing so
  3. How to link the autoinflammatory world with the PID world etc.
  4. Topic of data sharing
  5. Topic of education and information exchange (webinars vs. in-person meetings)