Presentation of IICN / Sanofi Genzyme Fellowship Grant 2016

Applications were invited from clinical neuroscience research teams for the 2016 IICN / Sanofi Genzyme Fellowship Grant in autumn 2016, see the call for applications at the link to follow IICN / Sanofi Genzyme Ireland Fellowship Grant -  Call for Applications 2016 

 

Seven applications were received for the Grant from Principal Investigators who has strong records of conducting research in their fields. The grant committee reviewed all applications and evaluated each project, securing external assessment by international experts in project areas. Following the grant committee's recommendation to the IICN Board of Directors, the Fellowship Grant was awarded to Professor Norman Delanty and Dr. Mark McCormack for their project “Sequencing the mitochondrial genome in adult patients with unexplained epilepsy”.
The Research Grant was presented at the conclusion of the very successful 53rd Annual Irish Neurological Association Meeting on May 19th in the Radisson St. Helen's Hotel, Dublin

 

Dr, Janice Redmond, President of the Irish Neurological Association 2017, Dr. Christopher McGuigan, Dean of the Irish Institute of Clinical Neuroscience, Dr. Peter Boers, IICN Grant Committee, Professor Norman Delanty and Dr. Mark McCormack, Principal Investigators of the 2016 IICN / Sanofi Genzyme Fellowship Grant, and Dr. Sarah Higgins, Medical Science Liaison, Sanofi Genzyme at the presentation of the Fellowship Award.

 

Sequencing the mitochondrial genome in adult patients with unexplained epilepsy.
The cost of high throughput next-generation sequencing is plummeting. Targeted sequencing on custom gene panels is an attractive option owing to the limited diagnostic return on sequencing genes beyond those implicated in the condition of interest. The benefits of finding a genetic cause are numerous; value to the family, the avoidance of unnecessary testing and the potential for precision therapeutics for the patient as exemplified by the implementation of a ketogenic diet in patients with GLUT1 deficiency. To date, sequencing efforts to identify novel “epilepsy genes” have focused primarily on the nuclear genome. Despite the vital importance of mitochondrial DNA to basic energy homeostasis, taken together with the large number of patients with unexplained epilepsy, to our knowledge there has been no systematic focus on the mitchondrial genome in adults with unexplained epilepsy. We aim to address this by sequencing the mitochondrial genome in 250 patients with unexplained epilepsy. We will compare this against control Irish mitochondrial genomes to identify pathogenic mutations and novel mitochondrial epilepsy genes. In doing so we hope to ultimately increase the yield of diagnostic genes in epilepsy and shed some light on the biology of some of the most enigmatic forms of epilepsy.

 

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