Paolo Pigini

Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disorders

The paper identifies 9,814 poison exons in the human genome, finds brain-specific splicing patterns, and links pathogenic variants to PE splicing affecting neurological disorders.

MAPT Splicing Modulators as a Therapeutic Strategy for Tauopathies

Discovery of SMCs that correct MAPT splicing, reduce 4R tau, and rescue pathology in patient-derived neuronal and in vivo models of 4R tauopathies.

Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia

This paper develops a CRISPR base editing strategy to correct the FD-causing mutation in human cells and mice, achieving up to 70% on-target correction and functional restoration.