Emily M. Logan

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.

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

Development of a novel oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.

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

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

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.

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

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.

A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders

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