Royal College of Surgeons in Ireland Coláiste Ríoga na Máinleá in Éirinn

Research agreement with Roche to identify genetic targets for childhood epilepsies

25 April 2018
Developing new treatments for childhood epilepsies and neuro-developmental diseases is the aim of a new partnership between RCSI (FutureNeuro, the SFI Research Centre for chronic and rare neurological diseases based at RCSI) and F. Hoffmann-La Roche Ltd. announced today.

The three-year partnership aims to guide scientists to new gene targets to control some of the devastating childhood epilepsies that do not respond to existing therapies. The research will be conducted from Professor David Henshall’s lab in FutureNeuro, the SFI Research Centre for Chronic and Rare Neurological diseases based at RCSI.

An estimated 2,000 children in Ireland are resistant to current treatment methods for epilepsy, which is one of the most common neurological conditions. This means that many children with epilepsy are having numerous, uncontrolled seizures every day. Over a prolonged period, this can have a devastating effect on their cognitive abilities.

“We are excited by the potential of this collaboration to advance our treatment options for children with currently un-treatable epilepsy,” said Prof. David Henshall, academic supervisor of the research project and FutureNeuro Centre Director.

“Our research aims to identify new biological targets that modify brain excitability and understand how these may be altered in children with difficult-to-control seizures. By joining up we can design and test new experimental therapies targeting these molecules,” added Prof. Henshall.

The partnership will build on recent breakthroughs in understanding how gene activity is controlled in the brain. This ultimately determines how signals are sent and received by neurons – the excitable cells in the brain - and explains why some areas of the brain suddenly fire altogether causing a seizure.

Peter Murphy, Chief Executive Officer of Epilepsy Ireland said: “Epilepsy is the most prevalent serious neurological condition in childhood, affecting up to 1% of children. The impact uncontrolled epilepsy has on children in terms of education and social life is hugely significant for both the individual and their family. Despite the wide range of treatments we have today, 30% of people with epilepsy continue to have seizures. As a result, there is a major need for new therapies that will target seizures in a different way to existing drugs, which don’t work for everyone. The opportunities presented by a better understanding of epilepsy at a genetic and molecular level offer great hope for the future, especially for those with rare and severe forms of treatment resistant epilepsy.”

The team will look for unusual gene expression patterns in brain tissue and cell models of childhood epilepsies, focusing on the genome’s so-called ‘dark matter’ - stretches of DNA which do not code for proteins but work as molecular switches to activate or inhibit protein production.

The research partnership will be led by a dedicated team of neuroscientists and bioinformaticians at the FutureNeuro Research Centre in RCSI who will work together on the project over the next three years.

Prof. Janusz Jankowski, Deputy Vice Chancellor, RCSI said: “This collaboration links the international recognised, multidisciplinary expertise of Future Neuro, an RCSI hosted SFI Research Centre, with one of the world’s largest pharmaceutical companies to advance our understanding of chronic neurological conditions. It is a great exemplar of how RCSI has evolved to tackle modern healthcare challenges using cutting edge technology."

Professor Mark Ferguson, Director General of Science Foundation Ireland and Chief Scientific Adviser to the Government of Ireland added: “Research excellence and innovation are at the core of SFI Research Centres, underpinned by talent and impact. FutureNeuro brings together an exceptional team of scientists, clinicians and other experts in a globally unique way, to undertake cutting-edge research on neurological disorders. This partnership with leading pharmaceutical company F. Hoffmann-La Roche Ltd, will focus on identifying genetic targets that may lead to new ways of treating epilepsy disorders."

FutureNeuro, which is funded by Science Foundation Ireland, aims to deliver advances in understanding disease initiation and progress. With this understanding, and through industry partnerships, new technologies and solutions for the treatment, diagnosis and monitoring of chronic and rare neurological diseases will be developed.