Contact information
Research groups
Collaborators
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Kevin Talbot
Head of Department and Professor of Motor Neuron Biology
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Ruxandra Dafinca
Brain Science Research Fellow and Group Leader
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Björn Vahsen
Postdoctoral Researcher and Junior Research Fellow
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Iris-Stefania Pasniceanu
Postdoctoral Research Associate
Colleges
Yiran Wang
BSc PhD
MNDA Junior Research Fellow
Exploring RNA regulation and therapeutics in amyotrophic lateral sclerosis
Research Summary
My research focuses on aberrant RNA and protein dysregulation driving neurodegeneration in amyotrophic lateral sclerosis (ALS), a devastating condition marked by progressive loss of motor neurons in the motor cortex and spinal cord. Current therapies offer only modest benefits, but recent evidence implicates disruptions in RNA metabolism and protein homeostasis as key contributors to ALS pathology. Nucleic acid–based therapies, including antisense oligonucleotides (ASOs), have been developed to address these mechanisms and show promising potential for treatment.
In particular, I explore an RNA alternative splicing event, called intron retention, which occurs in ALS-associated genes and leads to downstream RNA-binding protein dysfunction. I use induced pluripotent stem cells (iPSCs), disease-relevant cellular assays, and splicing-modulating ASOs and CRISPRs to uncover the mechanisms of neurodegeneration and explore potential therapeutic strategies for ALS.
My research is supported by the Motor Neurone Disease Association.
Recent publications
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Decoding the interactions and functions of non-coding RNA with artificial intelligence
Journal article
Jung V. et al, (2025), Nature Reviews Molecular Cell Biology
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Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB
Journal article
Clarke BE. et al, (2024), Molecular Neurodegeneration, 19
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The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes
Journal article
Raguseo F. et al, (2023), Nature Communications, 14
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Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition
Journal article
Ziff OJ. et al, (2023), Neuron, 111, 3011 - 3027.e7
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Estimating the effectiveness of routine asymptomatic PCR testing at different frequencies for the detection of SARS-CoV-2 infections
Journal article
Hellewell J. et al, (2021), BMC Medicine, 19