Dr Duddy is an expert in the molecular aspects of neuromuscular disease, and in the application of advanced computational methods to neuromuscular disease. He is co-lead of Ulster University’s neuromuscular research team, his primary focus being the translation of the team’s findings into clinical and commercial impact. Building on a diverse background in molecular & cellular biology, biochemistry, and bioinformatics, he integrates systems biology data analytics into the team’s cutting-edge cell and molecular studies. Results generated by this integrative approach have led the team to investigate the role of secretory vesicles (microscopic molecular packages released by cells) in neuromuscular and neurodegenerative disorders. The neuromuscular team has identified vesicles both as a source of neuronal toxicity – and therefore as novel drug targets - and also as a source of biomarkers that could enable diagnosis of a range of neuromuscular and neurodegenerative conditions from a simple blood draw.

His commitment to neuromuscular research derives from losing his brother to Duchenne muscular dystrophy - which he has discussed in the context of rare disease research advocacy.

Research background

Dr Duddy formed the neuromuscular team as co-lead with Dr Stephanie Duguez upon joining Ulster in 2016.

Previously, as project leader in bioinformatics at the Center of Research in Myology, Paris, he developed and applied data mining and systems biology approaches to muscle disease, especially for functional analyses of omics data. Some of the tools developed under his supervision are found here. He has also been involved in the in silico design of exon skipping oligonucleotides for genetic diseases such as Duchenne muscular dystrophy (DMD), and of novel truncated dystrophin proteins for DMD gene therapy. His PhD was on computational analyses of protein and protein::ligand interaction geometry, during which he learned various large data analytical techniques and programming. He then did wet-lab systems biology research at the Department of Integrative Systems Biology at Children's National Medical Center, Washington DC, where he ran transcriptome, proteome, and secretome analyses on cell and murine models of muscle disease, as well as studying muscle stem cell behaviour.

Research Focus

The neuromuscular team is founded on a core hypothesis that secretory vesicles play a key role in disease. A hallmark of the team’s research strategy is the close fusion of wet-lab experimental work with advanced data analytics – which is reflected in the team’s mixed composition of experimental (wet-lab) biologists and computational biologists. The team's interests extend across a range of neurological, neuromuscular, and musculoskeletal disorders, with a focus on Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neurone Disease. Starting from patient biopsies, the team uses methodologies that include in vitro cell culture and microscopy, along with antibody-based molecular assays, high-throughput omics technologies, and computational analytical approaches.

Current approaches to ALS are not highly effective, and diagnosis is difficult and time consuming, requiring numerous clinical assessments and taking many months to confirm. The cause of motor neuron cell death is unclear, and may arise from pathological changes in the motor neurons themselves, or in processes that go wrong in other types of cell or tissue. Research by the neuromuscular team has found that the release of tiny bubble-like structures called vesicles is abnormal in the muscles of ALS patients, and that vesicles from ALS patient muscle cells are toxic to motor neuron cells in the lab.

The team is focused on exploring secretory vesicles as biomarkers and drug targets for a range of health conditions.

Research Publications & Editorial roles

Dr Duddy has published more than 45 international research papers and book chapters, which have collectively been cited over 1,000 times (Scopus profile).

He has been an active editor of the Journal of Personalised Medicine since 2020, and is a regular peer reviewer for leading international journals including Nucleic Acids Research, Human Molecular Genetics, Plos One, Frontiers, Genes, Brain Communications, International Journal of Molecular Sciences, JoVE, MDPI Biomedicines, MDPI Applied Sciences, Biocybernetics, IBRO, Cells, and Proteomics Clinical Applications.

Professional & Civic Profile

These activities support collaborative research in personalised medicine for neuromuscular disease, and building partnerships that raise the profile of neuromuscular research and that raise public awareness of rare neuromuscular conditions.

Professional board and panel representations:

• Call Steering Committee member and Peer Review Panel member for the European Research Area Network in Personalised Medicine (2018-2023).
• Scientific Evaluator and Session Moderator of the ERA Personalised Medicine final symposium (2023).
• Doctoral Fellowship Evaluation Panel member for HSC Research & Development (2021).
• Research grant reviewer for BBSRC, MRC, French Association against Myopathy, Leverhulme Trust, Lombardy Regional Fund, Netherlands Duchenne Parent Project.

Charity involvement, professional partnerships, and public outreach:

• Board member of the Northern Ireland Rare Disease Partnership (2018-2020) and scientific advisor (2021-present).
• Member of Muscular Dystrophy UK Communications Group (2022-present)
• Author of RTÉ Brainstorm article, “A molecular murder mystery: what kills motor neurons?”
• Founding member of the Ulster University Alliance against Rare Diseases, Ulster-RARE

Dr Duddy is the module coordinator for Multi-omics and Systems Biology (BIO535) and for Applied Bioinformatics (BIO548), both of which are final year modules on the Personalised Medicine degree.

He also contributes lectures and/or assessments in the following modules, and teaching workshops to the MBBS medicine degree programme:

• BIO124: Genetic Inheritance and Genetic Variation in Human Disease
• BIO132: Biocomputing and Programming
• BIO337: Statistical and Computing Methods
• BIO349: Cellular and Molecular Pathophysiology
• BIO352: Biomedical Informatics

PhD candidatures to the neuromuscular team are welcome across the team’s areas of research interest – Dr Duguez or Dr Duddy can be contacted to discuss potential projects, and stipends are sometimes available through competitive university processes, proposals to charities and other funding bodies, or from the team’s new and existing funded grants.

The neuromuscular team’s work is supported from a combination of charities, foundations, governmental regional development funds, and industry collaborations. Funding bodies have included the ARSLA association for ALS research, the Association of British Neurologists, the French Muscular Dystrophy Association (AFM-Téléthon), Invest NI, the Irish Institute of Clinical Neuroscience, Muscular Dystrophy UK, and the Target-ALS Foundation.

The team is also grateful for the assistance in kind of the Motor Neurone Disease Association NI, and the Northern Ireland Rare Disease Partnership.