Epilepsy Society, UCL and Congenica Join Forces in Genomic Study to Identify Causes of Unexpected Deaths in Epilepsy

  • Sudden unexpected death in epilepsy (SUDEP) occurs in approximately 1/1000 people with epilepsy and is poorly understood
  • Genomic studies will seek to identify underlying genetic causes, to improve clinical understanding

Cambridge, United Kingdom – 23 October, 2018 – 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, announced on SUDEP Action Day, 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.

Prof Sisodiya (UCL Queen Square Institute of Neurology) who is also Director of Genomics at the Epilepsy Society, said: “This important study may help us find and understand some possible risk factors for SUDEP. Collaborating with Congenica will ensure analyses of the data are robust and comprehensive, optimising the chances of discovery.”

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 as part of Genomics England’s ground-breaking 100K Genomes Project and the recently-launched NHS Genomic Medicine Service. Congenica supports several other major national projects, including China’s national 100K Wellness project.

Nick Lench, CSO at Congenica, said: “We are excited to form a partnership with such a prestigious organisation as the Epilepsy Society and collaborate with Prof. Sisodiya at UCL, whose pioneering use of genetic medicine is beginning to enable the use of precision medicine for patients. 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.”

- ENDS -

Notes To Editors

About Congenica
Congenica is the developer of gold-standard clinical genomic diagnostic decision support platform, Sapientia. Based in Cambridge, UK, and born out of pioneering research from the NHS & Wellcome Trust Sanger Institute, Congenica is committed to supporting clinicians and doctors to quickly and accurately diagnose rare and genetic diseases to revolutionise treatments, design trials and aid in drug development.

Epilepsy is the most common serious neurological condition and affects more than half a million people in the UK, around one person in every hundred.

About the Epilepsy Society
Epilepsy Society is the UK’s leading provider of epilepsy services. Its headquarters in Buckinghamshire are a centre for medical research into the condition, housing the only MRI scanner in the UK dedicated solely to epilepsy. It also operates a globally unique NHS epilepsy assessment facility providing individual assessment, rehabilitation training and ground-breaking research opportunities. It also provides residential care to around 100 people with severe epilepsy.

Epilepsy Society runs a confidential helpline on Monday and Tuesday from 9am - 4pm and on Wednesdays from 9am - 7.30pm. It has a comprehensive range of information leaflets on many aspects of living and coping with epilepsy. In addition, the charity runs tailor-made training programmes for health professionals, employers and individuals as well as providing a comprehensive range of training and qualifications for staff members. 

Epilepsy Society helpline: 01494 601400
Epilepsy Society website: www.epilepsysociety.org.uk

Charity no: 206186

About SUDEP Action Day
Because there are three epilepsy-related deaths a day in the UK alone – awareness is not enough, it’s time to take action! That is why from 2017, this international day, supported by organisations across the world, is changing its name from Awareness to Action. We hope you join us again this year in leading the way however you can, wherever you are in the world.

SUDEP Action support line: 01235 772852
Find out more at: sudep.org and www.sudepactionday.org

Issued for and on behalf of Congenica by Instinctif Partners. 
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Email: congenica@instinctif.com

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