New software to deliver faster and more accurate diagnoses in genetic epilepsies is the ambition of a ground-breaking partnership between Congenica, a global provider of clinical genomics interpretation software, and FutureNeuro, the SFI Research Centre for Chronic and Rare Neurological Diseases.

The software will be designed to work with electronic health record (EHR) systems, including the Irish electronic health record 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.

The partnership, operating out of the FutureNeuro Human Genetics lab of Professor Gianpiero Cavalleri in RCSI, Dublin, will build on Congenica's clinical genomics analysis software, Sapientia^TM, to assist clinicians in making more tailored treatment decisions for certain types of genetic epilepsy. At the moment, epilepsy is diagnosed using EEGs, CT scans or MRIs, 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.

"Genomics is changing clinical medicine," said Dr Norman Delanty, 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 individualising 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 high quality epilepsy data.

Dr David Atkins, CEO of Congenica, said: "We are excited by what this collaboration could mean for patients and their families around the world. 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 people (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 impacts for the patient and family.

Director General of Science Foundation Ireland and Chief Scientific Adviser to the Government of Ireland, Professor Mark Ferguson, said: "I very much welcome this promising partnership between the SFI Research Centre 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. 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."

The alliance between Congenica and FutureNeuro, will further help the evolving understanding of the causes of many types of epilepsy and will also help to progress the exciting clinical alliance between genomics and electronic health records.

About FutureNeuro

FutureNeuro is a new SFI Research Centre dedicated to developing new technologies and solutions for the treatment, diagnosis, and monitoring of chronic and rare neurological diseases. It is supported by Science Foundation Ireland.

Initially focusing on Epilepsy and Motor Neurone Disease, FutureNeuro will build rapidly to help transform the lives of the approximately 700,000 people affected by neurological disorders in Ireland.

It connects national and multinational industry with key academics and clinicians based in our leading hospitals to provide diagnostic, therapeutic and E-Health solutions.

FutureNeuro's projects with industry partners will bring diagnostic supports to market, a pipeline of new drugs, and connected health solutions that enable patients to monitor and report their health better than ever before.

About RCSI

RCSI (Royal College of Surgeons in Ireland) is ranked among the top 250 (top 2%) of universities worldwide in the Times Higher Education World University Rankings (2018) and its research is ranked first in Ireland for citations. It is an international not-for-profit health sciences institution, with its headquarters in Dublin, focused on education and research to drive improvements in human health worldwide. RCSI is a signatory of the Athena SWAN Charter.

About Congenica

Congenica, a leading provider of genomic analysis software and services, has developed the gold-standard clinical genomics analysis platform Sapientia^TM. Based in Cambridge, UK, and born out of pioneering research from the Sanger Institute, Congenica aims to revolutionise personalised patient care through accurate diagnoses, curation of evolving knowledge bases and support in clinical trials and drug development.

Within a single secured platform, Congenica's world-class team of experts have gathered together all the resources necessary to enable clinicians and scientists to make informed medical decisions. Validated by Genomics England for the 100K Genomes Project, Congenica is empowering doctors around the world to diagnose the un-diagnosable.