Leila Yasmin Ben-Chaabane is a PhD student in the Department of Basic & Clinical Neuroscience at the Institute of Psychiatry, Psychology & Neuroscience, supervised by Professor Joseph Matthew Bateman and Professor Deb Pal. Alongside her doctoral studies, Leila is a research assistant on the mTOR Pathway Diseases node, part of the NIHR/MRC Rare Disease Research UK Platform.

Her research focuses on mechanistic target of rapamycin (mTOR) pathway diseases, a group of rare early-onset, hard-to-treat genetic conditions with symptoms ranging from benign tumours in multiple organs to brain malformations causing epilepsy. These diseases share a common underlying mechanism—hyperactivation of mTOR complex 1 (mTORC1)—but patients are often managed across disconnected medical specialties, making diagnosis, treatment, and clinical trials particularly challenging.

 Tuberous sclerosis complex (TSC) is by far the most common mTOR pathway disease, with an estimated incidence of 1 in 6,000 to 1 in 13,000 live births. Despite this, little is known about the epidemiology, natural history, treatment responses, and health economics of TSC and related diseases in the UK.

Leila’s PhD project, 'Using electronic patient records to understand the TSC and mTOR pathway diseases patient populations in the UK', addresses this gap. Working with the National Disease Registration Service (NDRS), she is building a UK TSC registry that includes 3,000 patients— the largest cohort of TSC patients worldwide.

Once established, this registry will expand to include patients with other mTOR pathway diseases, forming the world’s first comprehensive mTOR pathway diseases registry.

Through the Clinical Practice Research Datalink (CPRD), a database of anonymised primary care records covering 60 million UK patients, Leila also has access to data on approx. 2,700 TSC patients and several hundred patients with other mTOR pathway diseases, providing a unique opportunity to examine co-morbidities, treatment pathways, outcomes, and health service use across primary and secondary care.

The overarching aim of her doctoral work is to use these unprecedented datasets to improve understanding of the demographics, treatment access, and outcomes of people living with mTOR pathway diseases, ultimately driving advances in diagnosis, therapies, and quality of life for patients and families.

She holds an MSc in Clinical Neuroscience from University College London and a BSc in Psychology with Placement Year from the University of Essex. Her most recent publication can be found in the Orphanet Journal of Rare Diseases.