Supervisor View Full Details 2nd

• genetics, genomics and molecular biology
• neuroscience and mental health

• Medicine

• Neurology

The Epilepsy Programme at Beaumont Hospital is involved in number of research themes around advancing clinical genomics into patient care by performing whole exome sequencing in patients with epilepsy, including patients with unexplained epilepsy and learning disability. It has a broad research interest in genetics, including pharmacogentics and clinical microRNA biomarker studies. It has also developed a bespoke epilepsy electronic patient record (EPR) and has recently developed a genomics module within the EPR, which is used at our multi-disciplinary genomics meeting where sequence data is presented and correlated with patient phenotype.

The group also has a number of other clinical research interests including imaging, and epilepsy in pregnancy. It has a variety of active collaborations nationally and internationally, e.g., within RCSI (Prof. Gianpiero Cavalleri and Prof. David Henshall), with the HSE (Richard Corbridge and eHealth Ireland), with clinical colleagues around Ireland (Drs. Colin Doherty and Daniel Costello), and with genomics experts abroad (David Goldstein, Institute of Genomic Medicine, Columbia University, New York).

There is scope for a variety of clinical academic training projects within the Epilepsy Programme and associated research colleagues. Professor Delanty is a collaborator within FutureNeuro (a €8M SFI Research Centre, focusing on Neurological Disorders including Epilepsy), and is the Principle Applicant in the currently open HRB Collaborative Doctoral Award in Patient-focused Research. Professor Delanty’s collaborators are leading experts in their field, with strong track-records in patient-focused research and significant supervisory experience.

Potential projects for a clinician PhD could include the following:
1. The opportunities and challenges of bringing whole exome sequencing to the epilepsy clinic, and initiating a specific epilepsy genomics clinic.
2. Exploring the clinical utility and barriers to implementing precision therapies to a small cohort of epilepsy patients with clinically actionable molecular diagnoses.
3. Evaluating facial dysmorphology in clinical epileptology and embedding a dysmorphology module (with clinical photography) into the epilepsy EPR.
4. Bioinformatic appraisal of exome sequence data in patients with unexplained non-lesional focal epilepsy, with or without a family history of epilepsy.
5. Use of polygenic risk score analysis in a cohort of patients with unexplained epilepsy.