Congenica, the global diagnostic decision support platform provider, today announced a key partnership with the UK’s Epilepsy Society to study the genomics of sudden unexpected death in epilepsy (SUDEP). The new collaboration aims to improve the clinical understanding, prediction and treatment of the devastating and unpredictable condition, which affects approximately 1 in 1,000 adult and 1 in 4,500 paediatric patients with epilepsy every year.
SUDEP, which often occurs while epilepsy patients are asleep, is thought to be caused by a complex interaction of genetic factors rather than a single gene. As part of the partnership, an initial joint study will look at a cohort of 100 SUDEP clinical cases to better understand the condition’s underlying genetic causes. The multi-disciplinary research team will include scientists from the Epilepsy Society and members of Prof Sanjay Sisodiya’s clinical research team at UCL (University College London), alongside Congenica’s clinical scientists.
Whole genome and exome sequencing and analysis will be carried out to determine possible genetic causes of SUDEP, using Congenica’s gold-standard Sapientia™ diagnostic decision support platform. Based on technology developed at the world-renowned Wellcome Trust Sanger Institute, Sapientia is being used at NHS Genomic Medicine Centres across the UK and supports several major national projects – including Genomics England’s ground-breaking 100K Genomes Project and China’s national 100K Wellness project.