Projects

This page provides an overview of various projects that we are currently working on

Lysine metabolism and epilepsy

We have conducted a large unbiased multi-omic profiling of surgical brain samples from pediatric focal epilepsy patients; including those with focal cortical dysplasia (FCD), tuberous sclerosis complex (TSC), and Rasmussen’s encephalitis. One pathway that emerges as a common thread in this focal epilepsy is the involvement of lysine metabolism.

We are currently exploring lysine metabolism and how dysfunction in these pathways lead to epilepsy. We have several projects focused on exploring this in the context of tuberous sclerosis complex (TSC); but through collaborations, we are also exploring this in other forms of epilepsy such as pyridoxine-dependent epilepsy (PDE). In addition to studying the mechanism of how lysine metabolism contributes to epilepsy, we are also exploring various strategies to modulate this pathway as a new therapeutic approach for epilepsy; including dietary strategies, genetic strategies, and new drug development.

Funded studies:

Aquaporin and its role in metabolism and epilepsy

Aquaporin is a water channel protein in the brain. While its role in transporting water across cell membranes is well-characterized, emerging data suggests that it may be involved in stress response and metabolic regulation. Additionally, aquaporin proteins have been implicated in temporal lobe epilepsy and also emerges as an implicated system in our unbiased multi-omic profiling. We are currently characterizing the role of aquaporin in pediatric focal epilepsy such as tuberous sclerosis complex (TSC).

Funded studies:

Aconitase and glutamine metabolism in mitochondrial epilepsy

Through our previous work on mitochondrial epilepsy, we have identified astrocytic aconitase and glutamine metabolism as a vital pathogenic process that drives mitochondrial epilepsy (epilepsy in patients with mitochondrial disease). We are working on further understanding the involvement of this mechanism in mitochondrial epilepsy and how we can leverage our understanding of this pathway to generate new targeted therapies for mitochondrial epilepsy.

Characterizing and studying rare metabolic epilepsy

A seminal paper in 2022 surveyed the entire inherited metabolic disease (IMD) landscape and identified 600 genes that are associated with rare metabolic epilepsy. Many of these genes are ultra-rare mutations and thus very understudied in epilepsy research. Given our expertise in rare metabolic epilepsy, we are keen to change this by generating new models of rare metabolic epilepsy to advance our understanding of the mechanisms of these rare metabolic epilepsies.

We are proud to co-design several studies with our rare epilepsy charity partners on advancing research in specific rare metabolic epilepsies. We primarily use patient-derived fibroblast cell lines, induced pluripotent stem cell (iPSC) models, and Drosophila model for our rare epilepsy research. We combine in-depth molecular and cellular phenotyping with neurophysiology characterisation to study mechanisms underlying the rare metabolic epilepsies. We use our mechanistic understanding to then develop multi-pronged therapeutic approaches, combining dietary approaches, genetic therapies, and pharmacological interventions.

Funded co-designed studies with charity partners:

  • CureDHDDS - ‘Targeting PLA2G15 to ameliorate Niemann-Pick C-like lysosomal dysfunction in DHDDS-related neurodevelopmental epileptic disorders’ - 2026

  • CRELD1 Warriors - ‘Testing the effect of repurposed drug in model of CRELD1-associated disorders’ - 2026-2027

Funded studies from external partners:

Global healthcare inequality in epilepsy

Through lived experience engagement and patient-public involvement/engagement (PPI/E), we have uncovered in-depth inequality in epilepsy care and research worldwide. Leveraging our unique global collaborative network, we have begun embarking on systematically assessing this global healthcare inequality in epilepsy. We conduct mixed-method study with healthcare workers, epilepsy patient community, and epilepsy researchers to understand systematic barriers to epilepsy care and research. Through our experience, we are also developing expertise and experience in PPI/E embedding in biomedical and translational research.

We currently have an active research project in United Kingdom and Indonesia; with potential to expand this to other countries and global research partners.

Funded studies:

  • British Council x LPDP International Partnership Fund - ‘Targeted brain delivery Using Modern Pharmaceutical innovation of Antiepileptic drug to Solve drug-resistant Epilepsy in Indonesia (TUMPAS Epilepsy Indonesia)’ - 2025-2026

Thank You to Our Funders

Do you have project ideas or interest in working with us?

We are always open to hearing from the research stakeholders for potential project ideas and collaborations - please reach out to us and we are very happy to hear from anyone interested.

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