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Ground-breaking partnership aims to deliver faster, more accurate diagnoses for genetic epilepsy

Ground-breaking partnership aims to deliver faster, more accurate diagnoses for genetic epilepsy

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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, supported by Science Foundation Ireland. 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, 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.

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