A collaborative team effort that combines clinical and new patient identification with cellular and zebrafish model analyses to establish the unsuspected link between minor splicing, a poorly known and under-studied mechanism, and the primary cilium. Hence, for the first time, a pathophysiological mechanism is discovered for these rare syndromes associated with RNU4ATAC.

Check the publication here.

The next Pain School starts monday, october 22, 2022 in the neurological hospital of CHU de Lyon.