Research Fellow
- About
-
- Email Address
- holly.spence1@abdn.ac.uk
- Office Address
- School/Department
- School of Medicine, Medical Sciences and Nutrition
Biography
I studied Biomedicine at Lancaster University before completing my PhD in Medical Sciences at University of Aberdeen. Here, I explored the role of brain iron in age-related cognitive decline and the relationships between brain iron and blood markers for iron and inflammation. In March 2023, I joined the Gregory Lab as a post-doctoral research fellow where I explored biomarkers for TDP-43 pathology and their relation to other pathological changes in ALS. In February 2026 I was awarded the MND Association Lady Edith Wolfson Junior Non-Clinical Fellowship for independent research at the University of Aberdeen.
My current research focuses on the integration of clinical, histopathological and multi-omics datasets to investigate the role of TDP-43 and heavy metal dysregulation in the physical biology of ALS and other neurodegenerative diseases. I utilise brain imaging technologies, immunohistochemistry and metabolomics analyses, with the aim of improving precision medicine by developing paired biomarker and treatment target strategies for specific endophenotypes of ALS.
If you are interested applying for a PhD in this area of research, I welcome all informal inquiries.
Qualifications
- PhD Medical Sciences2023 - University of Aberdeen
"Brain iron and age-related cognitive decline"
- Msci Biomedicine2019 - Lancaster University
Latest Publications
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
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: ArticlesBrain 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
Large-scale RNA-Seq mining reveals ciclopirox olamine induces TDP-43 cryptic exons
Nature Communications, vol. 16, 6878Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41467-025-62004-5
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/241c593f-ccbf-45d4-87a8-fc457d6c5c13/download
- [ONLINE] View publication in Scopus
Prizes and Awards
September 2024 - Stefania Spanò Young Investigator Lecture Award
- Research
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Research Overview
My current research focuses on the integration of clinical, histopathological and multi-omics datasets to investigate the role of TDP-43 and heavy metal dysregulation in the physical biology of ALS and other neurodegenerative diseases. We utilise brain imaging technologies, immunohistochemistry and multi-omics analyses, with the aim of improving precision medicine by developing paired biomarker and treatment target strategies for specific endophenotype of ALS.
Research Specialisms
- Biomedical Sciences
- Cognitive Neuroscience
- Machine Learning
- Medical Sciences
- Neuroscience
Our research specialisms are based on the Higher Education Classification of Subjects (HECoS) which is HESA open data, published under the Creative Commons Attribution 4.0 International licence.
Current Research
Amyotrophic lateral sclerosis (ALS) is a pathologically heterogeneous disorder which is thought to be underpinned by several molecular phenotypes with differing prognosis. Therefore, lack of prior stratification for trials may limit conclusions about underlying pathobiology and therapeutic strategies. Instead, I focus on development of novel biomarkers and paired therapeutic strategies for precision medicine strategies specific to ALS endophenotype. I assess the biophysical and biochemical consequences of endophenotype specific pathological changes, including TDP-43 pathology and heavy metal dysregulation with the aim of identifying imaging and fluid biomarkers for stratification in ALS with a paired therapeutic strategy.
Collaborations
Dr Jonathan Ling (Johns Hopkins School of Medicine)
Dr Marta Vallejo (Herriot-Watt University)
Dr. James Longden (e-therapeutics PLC, Edinburgh)
Dr Ben Middlehurst (University of Liverpool)
Professor John Quinn (University of Liverpool)
- Publications
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Page 1 of 2 Results 1 to 10 of 15
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
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: ArticlesBrain 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
Large-scale RNA-Seq mining reveals ciclopirox olamine induces TDP-43 cryptic exons
Nature Communications, vol. 16, 6878Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41467-025-62004-5
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/241c593f-ccbf-45d4-87a8-fc457d6c5c13/download
- [ONLINE] View publication in Scopus
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
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
Associations between sex, systemic iron and inflammatory status and subcortical brain iron
European Journal of Neuroscience, vol. 60, no. 5Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/ejn.16467
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/7b060f78-0365-42f1-8b9a-945b961fc969/download
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
RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS
Acta Neuropathologica, vol. 147, 50Contributions to Journals: Articles