BSc MSc MRes PhD (Cantab.)
Advanced Research Fellow
- About
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- Office Address
- School/Department
- School of Medicine, Medical Sciences and Nutrition
Biography
My research centres on the early detection of neurodegenerative diseases and the understanding of disease heterogeneity to inform precision-prevention and precision-medicine approaches aimed at improving clinical outcomes for patients and individuals at risk of neurodegenerative conditions. My research is particularly focused on the basic and comparative aetiology and pathobiology of ALS/MND, FTD, Alzheimer’s disease, and Parkinson’s disease.
This work spans peripheral and systemic signatures of neurodegenerative disease, biomarker discovery and development (esp. aptamers), non-motor and systemic disease manifestations—including the role of the gut—co-pathologies and multiproteinopathies, the role of the immune system, and the synthesis of epidemiological and biological data to better understand disease heterogeneity.
I am also interested in the application of artificial intelligence and meta-analytical approaches to integrate complex biological, clinical, and population-level datasets, to support data-driven discovery, and translate complex research findings into clinically meaningful insights.
My research adopts an integrative, multidisciplinary approach informed by a broad range of research and training in classical and evolutionary genetics, genomics, data analytics and modelling, bioinformatics, molecular biology, experimental biology, neuroscience and immunity.
A central aim of my research is to translate discoveries into practical tools, resources and insights that can be used in clinical care and research, enabling preventive or disease-modifying therapies, improving clinical trial design, and ultimately improving outcomes for people with, or at risk of, neurodegenerative diseases.
Qualifications
- BSc Zoology2003 - National University of Ireland, Galway
- MRes Zoology2006 - National University of Ireland, Galway
- MSc Evolutionary Genetics and Genome Analysis2008 - University of Edinburgh
- PhD Evolutionary Genetics2013 - University of Cambridge
Internal Memberships
The Genetics Society
The Pathological Society of Great Britain and Ireland
Latest Publications
Protein misfolding enteropathy predicts and prognosticates neurodegenerative disease years before symptom onset
GastroenterologyContributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1053/j.gastro.2026.04.003
Metabolic signatures of ferritin and TDP-43 co-pathology provide a mechanistic basis for stratified therapeutic approaches in ALS
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.64898/2026.03.13.711539
Genotype-specific interferon signatures in amyotrophic lateral sclerosis relate to disease severity
Brain, vol. 149, no. 2, pp. 489-501Contributions to Journals: ArticlesAmygdala TDP-43 pathology is associated with behavioural dysfunction and ferritin accumulation in amyotrophic lateral sclerosis
Brain Communications, vol. 8, no. 2, fcag104Contributions to Journals: ArticlesQuantitative Profiling of Nanoscopic Protein Aggregates Reveals Specific Fingerprint of TDP-43-Positive Assemblies in Motor Neuron Disease
Advanced Science, vol. 12, no. 44, e05484Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/advs.202505484
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/28a77c8f-b5b9-4d75-96d4-db231ef9d41d/download
- [ONLINE] View publication in Scopus
- Research
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Funding and Grants
Statistical frameworks for the evaluation of undiagnosed gut proteinopathies as early indicators of neurological disease (PI): £19,930 | 2025 | Grant | NHS Grampian
A Laboratory Model for Antiviral Immunity in Molluscs (co-writer); £201,732 | 2018-06 to 2021-10 | Grant | The Leverhulme Trust (London, GB)
Establishment of a Laboratory Model for Antiviral Immunity in Molluscs (co-writer); £44,364 | 2017-04 to 2017-12 | Grant | Wellcome Trust ISSF (London, GB)
Antiviral immune expression in the mollusc Lymnaea stagnalis (co-writer); £1,791 | 2017-02 to 2017-06 | Grant | University of Edinburgh Moray Endowement Fund (Edinburgh, GB)
Next Generation Sequencing workshop hosted by the Vienna Graduate School of Population Genetics Registration and Travel Award; €1,000 | 2011-05 to 2011-06 | AwardEuropean Science Foundation (Strasbourg, FR)
St. John’s College, Cambridge Learning and Research Fund; £1,000 | 2010-06 to 2010-07 | Award | St. John's College, University of Cambridge (Cambridge, GB)
Summer Institute in Statistics and Modelling in Infectious Diseases workshop hosted by The University of Washington Registration and Travel Award; $4,000 | 2010-06 to 2010-07 | Award | National Institutes of Health (Bethesda, Maryland, US)
Marie Curie Early Stage Research Fellowship; £24,055 | 2007-09 to 2008-08 | Salary award | Marie Curie (London, GB)
Embark Initiative Thermadapt Programme Research Fellowship; €38,012 | 2003-09 to 2005-08 | Salary award | Irish Research Council (Dublin, IE)
- Publications
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Page 1 of 5 Results 1 to 10 of 47
Protein misfolding enteropathy predicts and prognosticates neurodegenerative disease years before symptom onset
GastroenterologyContributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1053/j.gastro.2026.04.003
Metabolic signatures of ferritin and TDP-43 co-pathology provide a mechanistic basis for stratified therapeutic approaches in ALS
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.64898/2026.03.13.711539
Genotype-specific interferon signatures in amyotrophic lateral sclerosis relate to disease severity
Brain, vol. 149, no. 2, pp. 489-501Contributions to Journals: ArticlesAmygdala TDP-43 pathology is associated with behavioural dysfunction and ferritin accumulation in amyotrophic lateral sclerosis
Brain Communications, vol. 8, no. 2, fcag104Contributions to Journals: ArticlesQuantitative Profiling of Nanoscopic Protein Aggregates Reveals Specific Fingerprint of TDP-43-Positive Assemblies in Motor Neuron Disease
Advanced Science, vol. 12, no. 44, e05484Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1002/advs.202505484
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/28a77c8f-b5b9-4d75-96d4-db231ef9d41d/download
- [ONLINE] View publication in Scopus
Protein misfolding in the gastrointestinal tract predicts and prognosticates neurodegenerative disease years before symptom onset
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.10.13.25337884
Brain Iron as a Surrogate Biomarker of Pathological TDP-43 Identifies Brain Region-Specific Signatures in Ageing, Alzheimer’s Disease and Amyotrophic Lateral Sclerosis
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.10.02.680028
Skin TDP-43 pathology as a candidate biomarker for predicting amyotrophic lateral sclerosis decades prior to motor symptom onset
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.04.10.648122
FUS mislocalization rewires a cortical gene network to drive cognitive and behavioral impairment in ALS
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.06.16.25329673
Computationally Designed RNA Aptamers Enable Selective Detection of FUS Pathology in ALS
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.04.30.651570