Understanding the role of social, economic and environmental determinants of health in rare genetic diseases using sickle cell disease as a case study

About the Project

The School of Public Health at Imperial College London is recruiting a talented, ambitious, and highly motivated candidate for a 3.5-year PhD studentship in Public Health, funded by the London Interdisciplinary Social Sciences Doctoral Training Partnership (LISS-DTP)

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), such as sickle cell disease and cystic fibrosis, 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.

Building on previous projects, including a pilot conducted with people with sickle cell disease to identify non-genetic factors that are the most relevant to their health, the primary aim of this project is 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 existing collaborations on sickle cell disease (SCD), a severe RGC which primarily affect people of African descent. Throughout the project we'll also involve people with other RGCs, such as cystic fibrosis, Huntington’s disease or thalassaemia, to hear about their lived experience. Our findings will help provide better guidance to people with SCD about potential risk factors for their complications and will provide a template facilitating similar investigations of other RGCs.

For this project, we have partnered with the UK Sickle Cell Society, which is the national charity connecting people with SCD, and the Genetic Alliance UK, which campaigns for RGCs in the UK. 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.

The successful candidate for this studentship will have an interest in rare disease conditions, combined with some experience of linking and analysing complex datasets, and excellent communication skills to interact with members of the affected communities. Feel free to contact us if you would like more information before applying.

As stated below, this studentship is only available to home-eligible applicants (based on UKRI eligibility criteria).

Supervisors:

• Frédéric PIEL: f.piel@imperial.ac.uk
• David REES: david.rees@kcl.ac.uk
• Paul TELFER: p.telfer@qmul.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)

Application Process:

To apply, please complete and return the documents below to the project supervisor(s) directly:

• LISS DTP CASE application form
• Personal statement explaining why you are interested in this opportunity and the best candidate for this studentship.
• 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

For enquiries, please contact f.piel@imperial.ac.uk