Susan A. Slaugenhaupt

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.

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 demonstrates that AAV-mediated MCOLN1 gene transfer improves motor function and reduces brain pathology in a mouse model of mucolipidosis IV.

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