Congenica and FutureNeuro said today they will partner to develop new software designed to deliver faster and more accurate diagnoses in some genetic epilepsies, through a collaboration whose value was not disclosed.
The collaboration is intended to apply Congenica’s clinical genomics analysis software, Sapientia, to genetic sequencing activities within FutureNeuro, a new research center focused on chronic and rare neurological diseases, and funded by Science Foundation Ireland, the republic’s national foundation for investment in scientific and engineering research.
The partners said they will design the software to work with electronic health record (EHR) systems, including the Irish electronic health record for epilepsy, with the goal of enabling clinicians and patients to access the entire diagnostic process—from initial DNA sequencing to determining treatment options—via EHRs. Such access is expected to deliver improved diagnoses over present methods, which include EEGs, CT scans, or MRIs, Congenica and FutureNeuro reason.
The partnership will operate from the lab of Prof Gianpiero Cavalleri, Ph.D., at Royal College of Surgeons in Ireland (RCSI). Dr. Cavalleri leads RCSI’s Human Genetic Variation Research Group, which studies the nature, extent, and geographic distribution of human genetic variation. The group has ongoing projects characterizing genetic signatures influencing epilepsy predisposition and treatment in humans; characterizing regions of the human genome under selection in high altitude/low oxygen environments; and exploring human population structure at genetic level.
In the collaboration’s first stage, the partners said, they will focus on enhancing the diagnostic potential of the Sapientia software specifically for epilepsy by complementing its existing base of epilepsy data with research from FutureNeuro.
Epilepsy is one of two initial areas of focus for FutureNeuro; the other is motor neurone disease. Ireland estimates that some 700,000 people are affected by neurological disorders—about 15% of Ireland’s population of 4.76 million people, according to Census 2016 results announced last year by Ireland’s Central Statistics Office.
FutureNeuro is designed to link national and multinational companies with key academics and clinicians based in Ireland’s leading hospitals to help develop new diagnostics, drugs, and e-health solutions.
“Genomics is changing clinical medicine. 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,” Prof. Norman Delanty, MB BAO, clinical neurologist with FutureNeuro, said in a statement.
Added Congenica CEO David Atkins, Ph.D.: “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.”
Launched in 2014, Sapientia is designed to analyze genome-scale DNA data, producing comprehensive diagnostic reports intended to facilitate clinical decision-making and inform R&D. The platform also allows users to carry out sequencing, annotation, and interpretation.
Congenica is based on research carried out by the Wellcome Trust Sanger Institute, a shareholder in the company, as well as by clinicians from the NHS and regional genetic testing laboratories.