Elisabetta Morini

This study shows that gene supplementation with ELP1 in a mouse model of familial dysautonomia rescues retinal structure and function, suggesting it as a potential therapy for FD-associated optic neuropathy.

This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.

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.

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

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.

This study shows splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.

This study uses transcriptome analysis in a humanized mouse model of FD to identify tissue-specific gene expression disruptions in the peripheral nervous system.

This paper develops an oral treatment, PTC258, that restores ELP1 splicing and improves symptoms in a mouse model of familial dysautonomia.

This study identifies molecular and functional changes in mouse and human models of 16p11.2 reciprocal genomic disorder, revealing context-specific disruptions in energy metabolism, RNA processing, and neuronal development.

This study characterizes retinal degeneration in a humanized mouse model of familial dysautonomia and shows that the splicing modulator BPN-15477 can correct the ELP1 splicing defect in the retina.

This study investigates the role of ELP1 in neuronal development by analyzing transcriptomes of mouse embryos with varying ELP1 levels, finding that ELP1 regulates gene expression and neuronal development.

The paper uses deep learning to identify new gene targets for a splicing modulator drug, validating predictions with in vitro assays.