PhD project summary:
Although individually rare, rare conditions are collectively common and affect around 3.5 million people in the UK. People living with rare genetic conditions (RGCs) often say that where they live, their income and access to facilities (e.g. hospitals, green spaces) can affect their health. Over time, this can impact their quality of life and career progression opportunities, often leading to poor mental health. It can also take a toll on relatives and affect their social networks, impacting society as a whole. Research suggests that up to half of the health problems faced by patients with RGCs may be linked to non-genetic factors. Nevertheless, our understanding of the role of social, economic and environmental (SEE) factors in RGCs is still limited. Addressing this gap would guide people affected to take positive actions or change their behaviours to improve their health.
The aims of this project are i) to work with people with lived experience to identify non-genetic factors that are the most relevant to their health; and ii) to develop a simple framework to link routine health data with SEE data. This will include data on health complications as well as mental health, distance to the nearest hospital and GP practice, as well as deprivation, the type of food shops and restaurants available, how much vegetation and water they have access to, or the level of noise and air pollution. We aim to use data sources and software for our analysis which are free. Descriptive and more complex analyses of the dataset bringing together all this information will help us to improve a more holistic understanding of the influence of SEE factors on day-to-day and long-term complications of people living with RGCs. Our findings will provide guidance to people affected and to relatives and professionals looking after their health.
To develop this framework, we will build on our previous work and collaborations on sickle cell disease (SCD), a severe RGC which primarily affect people of African descent. This project will have three major benefits. First, it will provide an opportunity to involve people with several RGCs, such as cystic fibrosis, Huntington’s disease or thalassaemia, to hear about their lived experience. Second, it will help provide better guidance to people with SCD about potential risk factors for their complications. Third, it will provide a template facilitating similar investigations of other RGCs.
For this project, we have partnered with the Genetic Alliance UK, which campaigns for RGCs in the UK, and the UK Sickle Cell Society, which is the national charity connecting people with SCD. These two organisations will facilitate interactions between the project and affected communities through short placements, community-involvement events, such as workshops and focus groups on SCD and at least two other RGCs, and dissemination events. Alongside our engagement with patient groups, we will also engage with the All-Party Parliamentary Groups on Genetic, Rare and Undiagnosed conditions, chaired by Peter Dowd MP, and on Black Health, chaired by Paulette Hamilton MP to support the use of our findings in policies.
Supervisor(s):
Frédéric PIEL: f.piel@imperial.ac.uk
David REES: david.rees@kcl.ac.uk
CASE non-academic partner: UK Sickle Cell Society: https://www.sicklecellsociety.org/
LISS Institution: Imperial College London, Faculty of Medicine, School of Public Health
PhD Programme: Clinical Medicine PhD programme (School of Public Health)
Full-time / Part-time: Either
1+3.5 or +3.5 studentship: Either
Fee Eligibility: Home‑eligible applicants only (UKRI eligibility guidance)
How to apply:
To apply, please complete and return the documents below to the project supervisor(s) directly:
- LISS DTP CASE application form
- Academic transcripts
- References
- Additional information as stipulated in the CASE project listing
Additionally, all applicants must complete:
- LISS DTP Diversity Monitoring Form (online)
Closing date for applications: 5pm, 29th May 2026
Interviews date: week commencing 15th June 2026