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.

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.