Michael E. Cheetham

This study develops an allele-specific antisense oligonucleotide to target EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy, reducing extracellular deposits and intracellular lipid accumulation.

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

This study uses retinal organoids from USH1C patients to show disrupted Muller glia signaling leads to retinal degeneration and loss of integrity.

This study develops a mouse model of rhodopsin sector RP and shows that dim red light and S1PR agonist treatment can prevent light-induced photoreceptor degeneration.

This study identifies two pathogenic mechanisms, RNA toxicity and TCF4 isoform dysregulation, in Fuchs endothelial corneal dystrophy using patient-derived corneal endothelial cells and multi-omics analyses.

This study identifies small molecules that enhance ABCA4 misfolding variant trafficking to the plasma membrane using an in vitro platform.

The paper uses optical genome mapping to analyze tissue-specific instability of the CTG18.1 triplet repeat in FECD, finding higher instability in corneal endothelial cells than in blood leukocytes.

This paper investigates the effects of eupatilin on cilia defects in CEP290-related retinal disease models and finds it improves cilium formation and reduces rhodopsin retention.

This study demonstrates that antisense oligonucleotides can correct splicing defects in the ABCA4 c.5461-10T>C variant, restoring protein function in retinal organoids.

This study shows that inhibiting VCP activity rescues degenerating P23H rod cells and improves their function in retinal models of adRP.

This study uses iPSC-derived retinal organoids to model RP2 retinitis pigmentosa and shows that AAV-mediated gene augmentation can rescue photoreceptor degeneration.

Pheno4J stores and queries genetic and phenotypic data in a graph database to improve efficiency for clinical genetic research.