Using whole exome sequencing to identify rare functional variants of severe neurological disorders
Severe neurological disorders including migraine, epilepsy and stroke are currently difficult to treat with many patients continuing to suffer from debilitating symptoms. Patients with these conditions have been shown to carry known genetic markers that may cause the disease, or influence their response to treatment. The problem is that many patients that present with symptoms do not possess the known genetic markers. This suggests that genetic markers located elsewhere in the genetic makeup of these patients is responsible for influencing (or even causing) their disease. The aim of this project is to test the complete genetic makeup of patients suffering from severe neurological diseases (including stroke, migraine and epilepsy) and compare these results to a healthy population of subjects from the UKBiobank. The results will be compared to the genomes of the general public (via the UKbiobank) to identify new genetic markers that might cause the disease.
This project will take 3 years to finish and successful completion will provide clinicians (Neurologists) with important genetic information about patients that will help personalise the diagnosis and treatment of their disease symptoms. The ultimate goal is to reduce the burden of these severe neurological diseases for the patient, their families and the population at large.