Topic: genome-wide association studies

This lecture examines traits and diseases influenced by many genetic variants. It introduces genome-wide association studies, pleiotropy and polygenic risk scores, then considers their use in precision medicine. Outstanding limitations include unexplained heritability and the uneven representation of human populations in genomic research.

Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been greatly under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies. The clinical evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Initial molecular discoveries occurred via classical methods of linkage and gene identification. Recent l