Author

Jacqueline van der Spuy

University College LondonORCID 0000-0001-5906-2116Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Farah Olivia Rezek· 2 shared Julio C. Corral-SerranoiD· 2 shared Michael E. CheethamiD· 2 shared Michel MichaelidesiD· 2 shared Thales A. C. de GuimarãesiD· 2 shared Alice E. DavidsoniD· 1 shared Amanda‐Jayne F. CarriD· 1 shared Ana Lisa Tavares· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersMolecular Biology

Farah Olivia Rezek

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Molecular BiologyMolecular Therapy — Nucleic AcidsPeer-reviewedMay 19, 2026

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy

Farah Olivia Rezek, Beatriz Sanchez-Pintado, Emily R. Eden…·Jacqueline van der Spuy

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.

3 citationstop 5%

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintMar 26, 2026

A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics

Ella F. Whittle, Kylie Montgomery, Carme Camps…·Mina Ryten

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

1 citation

statistical modelbenchmark study

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NeuroscienceCellsPeer-reviewedJun 7, 2023

Eupatilin improves cilia defects in human CEP290 ciliopathy models

Julio C. Corral-Serrano, Paul E. Sladen, D Ottaviani…·Michael E. Cheetham

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.

29 citations

humanexperimental assay

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