Genetics Working Party

Dear ESID Members,

Following the last Newsletter, I have been contacted by some sequencing hubs who would like to appear on the ESID Website, thus it would be nice if we could discuss about matter in the next coming days. And I think we could still mention that if there are any sequencing hubs interested they can contact me (at
anne.puel@institutimagine.org or at anne.puel@inserm.fr )

It would also be interesting to ask whether some laboratories would like to be advertised on the ESID Website within the WGP for their expertise in a specific IEI, or a specific gene, and if they would be interested to collaborate if contacted to functionally test variants of unknown significance.

Further more, one of the sequencing hub who contacted me would be interesting in having guidelines on the process to analyze either PID panels or whole exome sequencing. Do you think we could ask whether some juniors would be interested to participate to elaborate those guidelines.

Finally, I would like to make a call to ESID members interested in the epigenetic regulation in IEI, if they are any could they contact me. It could be a new field within the GWP.

Best Wishes,

Anne Puel
ESID Genetics Working Party Chair