New software to deliver faster and more-accurate diagnoses of genetic epilepsy is the ambition of a partnership between Congenica, Cambridge, United Kingdom, and FutureNeuro, the research center for chronic and rare neurological diseases at Science Foundation Ireland.

Operating out of the FutureNeuro human genetics lab of Gianpiero Cavalleri, PhD, the partnership will build on Congenica’s clinical genomics analysis software, Sapientia, to assist clinicians in making tailored treatment decisions for certain types of genetic epilepsy.

The software will be designed to work with electronic health record (EHR) systems, including the Irish EHR for epilepsy, so that the entire diagnostic process, from initial DNA sequencing to determining treatment options, is available to clinicians and patients through their electronic records.

At the moment, epilepsy is diagnosed using computed tomography, electroencephalography, or magnetic resonance imaging, which only provide a limited picture of a person’s epilepsy. Genomics, which focuses on the structure, function, mapping, and editing of genomes, is a new and powerful tool for reaching a molecular diagnosis, which in turn can inform and improve treatment options.

Norman Delanty, MD,  FutureNeuro.

Norman Delanty, MD, FutureNeuro.

“Genomics is changing clinical medicine,” says Norman Delanty, MD, clinical neurologist with FutureNeuro. “Neurologists need to embrace it as a new powerful diagnostic tool to allow us to understand the many challenging faces of epilepsy, and lead us to individualizing treatment and prognosis in the clinic.”

The first stage of the project will focus on enhancing the diagnostic potential of the Sapientia software specifically for epilepsy. Sapientia was born out of a pioneering research project at the Sanger Institute; it will be linked with genetic sequencing activities within FutureNeuro to complement Sapientia’s existing knowledgebase of epilepsy data.

David Atkins, PhD, Congenica.

David Atkins, PhD, Congenica.

“We are excited by what this collaboration could mean for patients and their families around the world,” says David Atkins, PhD, CEO of Congenica. “The types of genetic mutations that this project will focus on are thought to be at the root of as much as 40% of childhood epilepsy.”

Epilepsy affects more than 60 million people worldwide, making it one of the most common neurological conditions. Though it can be managed, the condition can be particularly damaging to both children and adults who continue to have seizures, with a high potential risk of brain damage. If diagnosis is delayed, the person may have ongoing seizures without appropriate therapy for some time. Earlier diagnosis would see positive affects for the patient and family.

Mark Ferguson, PhD, Science Foundation Ireland.

Mark Ferguson, PhD, Science Foundation Ireland.

“I very much welcome this promising partnership between the SFI research center FutureNeuro and the Wellcome Sanger Institute spin-out, Congenica, which is an excellent opportunity to promote closer industry linkages between our top-class researchers and a pioneering genomics company,” says Mark Ferguson, PhD, director general of Science Foundation Ireland and chief scientific adviser to the government of Ireland. “I look forward to seeing the results. Partnerships like this create strong research links between the UK and Ireland, as well as improving outcomes for patients with neurological conditions through FutureNeuro’s key thematic areas of diagnostics, therapeutics, and e-health.”