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Exploring Genetic Diagnosis for Complex Epilepsies

The aim of this project is to perform whole genome sequencing analysis of people with complex epilepsy and to interpret this information in the clinical context. DNA samples of people with complex epilepsy (termed 'epilepsy plus' as the epilepsy is accompanied by conditions such as a learning disability, facial dysmorphism or autism) will be sequenced and analysed to identify new epilepsy syndromes and new genetic causes and to understand more about the genetic architecture of the epilepsies. This will help give more of the individuals participating in the programme an accurate diagnosis and provide the basis for developing individualised treatments.

Impact of the Research:
The results of this study have the potential to improve patient diagnosis, treatment and management of epilepsy as a whole.  Our research findings could lead to new scientific discoveries, enhanced understanding of the genetic architecture of epilepsies, identification of risk factors and therapeutic markers, which could all potentially lead to the development of novel anti-epileptic drugs.

Research paper: Genome annotation for clinical genomic diagnostics: strengths and weaknesses