Academics receive Emerging Leader Fellowships from the Epilepsy Research Institute UK

Dr Giampiccolo’s project is titled ‘Neuroscience-based Epilepsy Treatment With Optimised Retrospective Knowledge and Subcortical disconnection’. Seizures in epilepsy disrupt daily life and also increase the risk of early cognitive decline and earlier mortality. Emerging evidence indicates that epilepsy occurs through a network involving many parts of the brain. In this project, the team will investigate if disconnecting this network can improve the chances of people becoming seizure-free after surgery.  

Dr Carpenter’s project is titled ‘Advancing precision medicine: genome engineering for on-demand gene therapy in Dravet syndrome’. Dravet syndrome is a severe type of epilepsy that begins in infancy. More than 85% of people with Dravet Syndrome have a change in a gene known as SCN1A. This project will use a gene editing technique to ‘search and replace’ the DNA sequences that control how the SCN1A gene is read. They hope this will activate the healthy SCN1A gene as and when it is needed by cells, and overcome the disadvantages with current genetic therapies. 

Dr Clayton’s project is titled ‘Understanding autonomic dysfunction in Dravet syndrome’. People with Dravet Syndrome also experience dysautonomia, which is an abnormality in the way the body regulates internal organs and bodily processes such as heart rate, body temperature, and digestion. This study will use autonomic function testing in people with Dravet Syndrome to learn more about dysautonomia and how it affects people. 

Dr Giampiccolo said:

“A third of individuals with epilepsy are resistant to medication, for whom surgery is the only possible cure. However, only half of patients become seizure free using current surgical techniques. There is increasing evidence that the brain’s pathways are as involved in seizures as its surface, the cortex, so disconnecting these may support seizure freedom. With the Emerging Leader fellowship from the Epilepsy Research Institute UK, the largest research-funding charity for epilepsy in the UK, I aim to evaluate which connections are the most important targets for surgery to enable seizure freedom, to help those patients for which there is no other cure.”

Dr Carpenter said: 

"I am thrilled to have the opportunity to develop a groundbreaking treatment for Dravet syndrome. This innovative therapy offers a permanent cure, uniquely designed to adapt dynamically to the patient's developing brain over their lifetime. Beyond curing seizures, it promises to significantly alleviate other debilitating aspects of the disease. By integrating cutting-edge technologies into our research, we are setting a new standard in treatments for Dravet syndrome and other rare genetic epilepsies."

Dr Clayton said:

"Working closely with people living with Dravet syndrome has deepened my understanding of the importance of non-seizure aspects of condition, known as comorbidities. These comorbidities can negatively affect a person’s overall health and have substantial impacts on the quality of life for those with Dravet syndrome and their families. Dysautonomia is an important comorbidity in Dravet syndrome which is poorly understood, but which may contribute to risk of seizures and sudden unexpected death in epilepsy through various mechanisms. Through my research, I hope to advance our understanding of dysautonomia in Dravet syndrome, leading to better recognition, evaluation, and management of this crucial comorbidity.

Related

• Dr Davide Giampiccolo’s academic profile
• Dr Jenna Carpenter's academic profile
• Dr Lisa Clayton's academic profile
• UCL Queen Square Institute of Neurology
• Epilepsy Research Institute UK