ELP1 and Fabry disease: In another work, Pagani’s team [58] tested the therapeutic effect of ExSpeU1s in Familial dysautonomia (FD), a rare neurodegenerative genetic disease with no treatment, caused in more than 99% of the patients by a homozygous intronic point mutation (c.2204+6T>C) in the ELP1 gene, which causes different degrees of exon 20 skipping in various tissues.