A pharmacogenomic study of chronic refractory epilepsy

21 December 2009
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'2009: A pharmacogenomic study of chronic refractory epilepsy' image

Principal Investigator:
Dr. Gianpiero Cavalleri, The Royal College of Surgeons in Ireland


€147,758 over three years. 50% of the funding for this project has been made available by the Health Research Board (HRB) through the Joint Funding Scheme operated by the HRB and the Medical Research Charities Group, of which Epilepsy Ireland is a member. Epilepsy Ireland will fund the other 50% through fundraising.

About Dr. Cavalleri

Dr. Cavalleri is a Biomedical Research Lecturer in Epilepsy Genetics and Pharmacogenetics at the Royal College of Surgeons (RCSI). Prior to this, he worked at the Institute for Genome Science and Policy at Duke University, North Carolina. The main focus of Dr. Cavalleri's programme of research at RCSI is on understanding how genes are involved in the development and treatment of complex, sporadic forms of epilepsy.

About this project:

Although most people with epilepsy manage to control their epilepsy through treatment with anti-epilepsy drugs, around one-third of patients have severe epilepsy which is resistant to medication. Many people experience a combination of uncontrollable seizures and adverse drug reactions.

With current knowledge, doctors have few indicators to predict which patients will respond to a particular drug treatment and to what extent. However, it is believed that genetics may play a role. Therefore, understanding the genetics of drug response offers the potential to tailor treatment to the individual which would in turn help improve outcomes for the patient.

Dr. Cavalleri's study will explore the role of genes in patients' responses to epilepsy drug treatment, using the latest generation of genetic techniques.

The research team will gather information from over 1000 people with epilepsy. They will create an electronic resource to store, for each participant, a comprehensive set of drug response and other clinical details.

All the people involved will be monitored to see how they are responding to treatment and how they have responded in the past. The research team will then correlate variation across the genome with patient response details to determine the potential of genetics to identify those patients who respond poorly to treatment.

This study will provide a thorough assessment of the potential for genetics to be used as a guide for doctors in identifying which of their patients with epilepsy will respond to medication and which will not. It will also help to build the knowledge base required to deliver on the long term goal of providing optimal holistic care to individuals with epilepsy and related disorders.

You can read more about the work of the epilepsy programme at RCSI/Beaumont Hospital at www.epilepsyprogramme.ie


Results of the study can be downloaded in the pdf at the end of the page. The article was originally published in Epilepsy News Summer 2014.

Attached Documents

PDF icon Cavalleri Summary Report (Cavalleri_Summary_report.pdf | 97 kB)
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