FutureNeuro epilepsy diagnosis research goes to molecular level

Sapientia introduces genomics data to electronic patient records

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12 February 2018 | 0

A new project from software developer Congenica and FutureNeuro, the Science Foundation Ireland-backed centre for research into neurological conditions, is set to add a new dimension to the diagnosis and potential treatment of epilepsy.

The software – Sapientia –  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.

Epilepsy is normally 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.

The first stage of the project will focus on enhancing the diagnostic potential of Sapientia 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.

“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.”

Dr David Atkins, CEO, 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.

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