Genetics Working Party

Genetics WP - February 2023

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At the biennial ESID meeting in Gothenburg Prof. Bodo Grimbacher has been elected head of the genetics working party. Here comes his first report. 

Dear ESID members,

Providing a molecular genetic diagnosis to all patients within Europe, for whom the suspicion of an IEI has been voiced, will definitely be a great challenge. However, we need to pick up on this challenge for the benefit of our patients. To this end, the genetics working party of ESID is looking for representatives of each country to report on their specific needs. A list to countries which seem to be well served with regard to the provision of a genetic diagnosis can be found on the ESID website (link to URL).

However, even in these countries where providing genetics does not seem to be a problem, the result interpretation often times becomes a bottleneck, as many variants of unknown significance (VUS) cannot be assessed on functional grounds. We therefore would like to create a network of world-wide collaborations of gene-specific specialists who can be approached for the assessment of VUS’es either by computational or by functional analysis.