Congenica, Cambridge, UK, has entered into a key partnership with the Epilepsy Society, Chalfont St Peter, UK, to study the genomics of sudden unexpected death in epilepsy (SUDEP).
SUDEP often occurs while epilepsy patients are asleep, and affects approximately 1 in 1,000 adult and 1 in 4,500 pediatric patients with epilepsy every year. The research collaboration aims to improve the clinical understanding, prediction, and treatment of the devastating and unpredictable condition, which is thought to be caused by a complex interaction of genetic factors rather than a single gene.
The research partners will conduct an initial study reviewing a cohort of 100 SUDEP cases to better understand the condition’s underlying genetic causes. The multidisciplinary research team will include scientists from Congenica and the Epilepsy Society as well as members of the clinical research team of Sanjay Sisodiya, MB BChir, PhD, at University College London.
“This important study may help us find and understand some possible risk factors for SUDEP,” says Sisodiya, who is also director of genomics at the Epilepsy Society. “Collaborating with Congenica will ensure analyses of the data are robust and comprehensive, optimizing the chances of discovery.”
Whole-genome and exome sequencing will be carried out to determine possible genetic causes of SUDEP, and analyses will be performed using Congenica’s Sapientia diagnostic decision support platform.
“We are excited to form a partnership with such a prestigious organization as the Epilepsy Society and collaborate with professor Sisodiya at UCL, whose pioneering use of genetic medicine is beginning to enable the use of precision medicine for patients,” says Nick Lench, chief scientific officer at Congenica. “The genomic knowledge generated in this project has great potential to positively impact the way we manage epilepsy patients by better understanding any underlying genetic factors that might contribute to SUDEP.”