Genetics Working Party
Current topics
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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]> |
| 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:
- 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…
- Write a guidance document of best practice for molecular/genetic diagnosis in IEI and generate evidence for the justification of doing so
- How to link the autoinflammatory world with the PID world etc.
- Topic of data sharing
- Topic of education and information exchange (webinars vs. in-person meetings)
