Development of new software will improve treatment options for patients

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 Prof 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.

 

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.

 

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.

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.