PhD Studentship/Fellowship; Parkinson’s Disease, Spastic Paraplegia and Repeat Expansion Disorders: using Long-Read Sequencing to Identify Mechanisms and Disease Pathways

Introduction: Parkinson’s disease, spastic paraplegia 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 define disease cohorts, mainly based in the UK, work on patient blood samples and donated brain tissue and use the latest short exome/genome sequencing and long-read sequencing to define known genes, discover new disease genes and expansions associated with neurodegenerative disease. 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 (PD), multiple system atrophy (MSA), spastic paraplegias (HSP) and repeat expansion disorders (RED) with a range of wet lab techniques from DNA and RNA extraction to fragment analysis, and exome sequencing and analysis.
2. Define genetically defined and non-defined PD, MSA, HSP, RED phenotypes.
3. Re-analyse short read exome and genome data.
4. Long-read DNA sequencing and analysis in select genetically negative families.

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

Important eligibility and funding details

Funding and UCL student fees: PhD stipend, UCL rates, Y1 £23,180, Y2 £24,223, Y3 £24,952.

UK home PhD fees only, total amount for fees; 3 years £19,780. Year 4 is Completing Research Status.

Eligibility for this studentship: UCL PhD home fees only (UK passport holders) are only covered by this studentship. Eligible for home UK students and passport holders.

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 2.1 Honours BSc degree, ideally and MSc with genetics, epidemiology or laboratory experience or an 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, only shortlisted candidates will be contacted interviewed in April/May 2026.

To apply, please send an email and CV to uclphd.advert@yahoo.com via the ‘Apply’ button above.

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