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 focuses on the roles of immunity, inflammation, and the gut-brain axis in ALS. I also work on biomarker developement in neurodegenerative disease but for ALS in particular. I am interested in heterogeneity, and early detection of disease, and my work involves a combination of experimental, molecular, histological, bioinformatics and meta-analytical approaches to answer fundamental questions in ALS research.
I obtained my PhD in Evolutionary Genetics from the University of Cambridge before undertaking postdoctoral work at the Institute of Evolutionary Biology at the University of Edinburgh.
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: Articles- [ONLINE] DOI: https://doi.org/10.1093/brain/awaf324
Amygdala 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
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 2 of 5 Results 11 to 20 of 47
Fingerprinting disease-derived protein aggregates reveals unique signature of Motor Neuron Disease
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.5281/zenodo.14960397
Improving ALS detection and cognitive impairment stratification with attention-enhanced deep learning models
Scientific Reports, vol. 15, no. 1, 7045Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41598-025-90881-9
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/eeb78e48-3c62-40f6-bd7d-3cd12b732c1b/download
- [ONLINE] View publication in Scopus
Organellomics: AI-driven deep organellar phenotyping reveals novel ALS mechanisms in human neurons
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2024.01.31.572110
Machine learning identifies routine blood tests as accurate predictive measures of pollution-dependent poor cognitive function
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2025.01.10.632396
Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis
Brain Pathology, vol. 35, no. 1, e13287Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/bpa.13287
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/7f5fe087-34e9-4a35-9b2b-5f98b51bdde2/download
- [ONLINE] View publication in Scopus
Integrating Transfer Learning and Attention Mechanisms for Accurate ALS Diagnosis and Cognitive Impairment Detection
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2024.09.22.24313406
An adaptable protocol for antibody & TDP-43 RNA aptamer dual immunohistochemical staining for FFPE-preserved human tissue: with SOP and tick-sheet
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.17504/protocols.io.yxmvm97k6l3p/v1
Antibody and TDP-43 RNA aptamer dual staining to detect patterns of co-pathology in FFPE-preserved human tissue, as described in Rifai et al., 2024 (Brain Pathology): A SOP and tick-sheet. V1
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.17504/protocols.io.14egn6wnml5d/v1
Understanding the influence of altered lipid metabolism on TDP-43 pathology: a protocol for a systematic review and meta-analysis v1
protocols.io.Other Contributions: Other Contributions- [ONLINE] DOI: https://doi.org/10.17504/protocols.io.8epv5xk75g1b/v1
Amygdala TDP-43 pathology is associated with behavioural dysfunction and ferritin accumulation in amyotrophic lateral sclerosis
Working Papers: Preprint Papers- [ONLINE] DOI: https://doi.org/10.1101/2024.06.01.596819