PhD Studentship/Fellowship; Parkinson’s disease and repeat expansion disorders: using long-read sequencing to identify mechanisms and disease pathways

Introduction:

Parkinson’s disease and repeat expansion disorders are common and severe disorders, where the most significant discoveries and treatment pathways have come from the identification genetic causes; a good example of this is work from Prof Hardy’s team on the discovery of the APP gene in Alzheimer’s disease (see review, J Neurochem. 2025 Jul;169(7):e70148. doi: 10.1111/jnc.70148, that directly led to the drug Lecanemab and the PSMF1 gene, identified in our laboratory, on Parkinson’s disease that has led to the discovery of a new pathway (Magrinelli et al 2026, Nature Comms in press). In many recent PD genes there is a continuum developmental and spastic paraplegia through to degenerative PD. Despite this progress, our molecular understanding of the genes that cause neurodegeneration remains limited, as most clearly evidenced by the paucity of disease-modifying treatments.

In Parkinson’s, multiple system atrophy (MSA) and repeat expansion disorders this is significant overlap clinically. The PhD student will work on patient blood samples and donated brain tissue and use the latest long-read sequencing and Optical Genome Mapping to discover new disease genes and expansions associated with neurodegenerative disease, sequence expansions to understand interruptions and mosaicism, RNA expression and splicing.

In this project the student would benefit from the huge patient resources at UCL Institute of Neurology and The National Hospital to leverage our expertise in long-read DNA and RNA sequencing technologies in our long-read facility.

Major aims and techniques:

1. Investigate Parkinson’s disease, multiple system atrophy (MSA) and repeat expansion disorders with a range of wet lab techniques from DNA and RNA extraction to fragment analysis, and exome sequencing and analysis.
2. Long-read DNA sequencing and analysis in neurodegenerative disorders.
3. Long-read RNA sequencing and analysis in neurodegenerative disorders.
4. Brain tissue, plasma and iPSC/other protein analysis to confirm DNA/RNA findings.

Duration. Full-time: 3-4 years UCL studentship/fellowship, starting from Autumn (October 2026) UCL term

PIs: Prof John Hardy, Prof Henry Houlden and Dr Zhongbo Chen

Funding

PhD stipend, UCL rates, Y1 £23,180, Y2 £24,223, Y3 £24,952.

UK home PhD fees, total over 3 years £19,780. Year 4 is Completing Research Status (CRS).

Lab consumables are from Hardy/Houlden DRI awards.

Overseas applicants welcome, but are required to pay the UCL international tuition fee balance.

The successful candidate will be a highly motivated individual who can work both independently and as part of a team. Applicants must hold a biological and/or medical degree or a related subject as or candidates should have (or expect to achieve) a minimum of a 2.2 Honours BSc degree or MD/medical degree or MBBS.

Location

UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG

Closing Date: April 24th, Shortlisted candidates interviews in early May 2026.

To apply or queries, please send a CV to h.houlden@ucl.ac.uk

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