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Research Portfolio

GRANT TITLE:

Advancing precision medicine: genome engineering for on-demand gene therapy in Dravet syndrome

GRANT TYPE:

EPILEPSY RESEARCH INSTITUTE AND DRAVET SYNDROME UK EMERGING LEADER FELLOWSHIP

grant amount:

£222,752.27

lead investigator:

Dr Jenna Carpenter

Co-Investigators:

-Professor Gabriele Lignani

institution:

University College London

Background

People with Dravet Syndrome experience frequent, treatment resistant seizures as well as delayed development, intellectual disability, and other co-morbidities.

More than 85% of people with Dravet Syndrome have a change in a gene known as SCN1A. The SCN1A gene contains genetic instructions for a sodium ion channel, an important protein in the brain. In Dravet Syndrome, the change in the SCN1A gene leads to the sodium ion channel not functioning properly.

As we have two copies of each gene, people with Dravet Syndrome have one healthy copy. Genetic treatments are currently in development to try to enhance the reading of the healthy SCN1A gene, with the aim of improving the function of the sodium ion channels. Whilst the current treatments in development show promise, there are some limitations, such as the requirement that the tools delivering the therapy remain in the brain, risking long-term effects.

"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.

The Study

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.

The team will test this cutting-edge technology in human cells and ‘mini brains’, to see how well these sequences can treat Dravet Syndrome.

Significance

This research will enhance our understanding of how the SCN1A gene is read and give us more information about the changes in this gene that cause Dravet Syndrome and other related epilepsies. If successful, this project will establish a ground-breaking treatment strategy for Dravet Syndrome and other genetic epilepsies.