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 ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Andorra |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Austria |
unknown, ESID contact person: Kaan Boztug |
| Belarus |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Belgium |
yes, ESID contact person: Isabelle Meyts at <isabelle.meyts@uzleuven.be> |
| Bosnia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Bulgaria |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Croatia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Czech Republic |
yes, via geneticist, ESID contact person: Tomas.Freiberger@cktch.cz |
| Denmark |
yes, ESID contact person: Trine Mogensen at <trine.mogensen@biomed.au.dk> |
| Estonia |
yes, please contact: Kairit Joost at <Kairit.Joost@itk.ee> or Krista Ress at <Krista.Ress@itk.ee> |
| Finland |
yes, ESID contact person: Mikko Seppänen <Mikko.Seppanen@hus.fi> |
| France |
yes, ESID contact person:Guilaine Boursier, Anne Puel at <anne.puel@inserm.fr>, or Capucine Picard <capucine.picard@inserm.fr> |
| Germany |
yes, ESID contact person: Klaus Schwarz |
| Greece |
no, contact person: Matthaios Speletas |
| Hungary |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Iceland |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Ireland |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Israel |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Italy |
yes, ESID contact persons: Vassilios Lougaris at <vlougarisbs@yahoo.com> and Raffaele Badolato at <raffaele.badolato@unibs.it> |
| Latvia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Lichtenstein |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Lithuania |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Luxembourg |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Macedonia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Malta |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Moldavia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Monaco |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Montenegro |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de 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 <astrayped@gmail.com> |
| Poland |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Portugal |
yes, ESID contact person: Joao Pedro Marques Farela Neves <joao.farelaneves@chlc.min-saude.pt> |
| Republic of Cyprus |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Romania |
yes, please contact Adela Chirita-Emandi at <adela.chirita@umft.ro> for further information |
| Russia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Serbia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Slovakia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Slovenia |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Spain |
yes, ESID contact person: Roger Colobran at rogercolobran@gmail.com |
| Sweden |
yes, please contact Lennart Hammarström <lennart.hammarstrom@ki.se> |
| Switzerland |
yes, ESID contact person: Mike Recher at <Mike.Recher@usb.ch> |
| Turkey |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| Ukraine |
unknown, please contact ifi.esid.genetics@uniklinik-freiburg.de if you have this information |
| United Kingdom |
yes, ESID contact persons: Sophie Hambleton at <sophie.hambleton@nhs.net> or Kimberly Gilmour <Kimberly.Gilmour@gosh.nhs.uk> |
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)
