The rare arrhythmia syndrome evaluation (RASE) 100K genomes project: Enhanced phenotyping for greater insights (RASE GEL)

Research summary

Three main arrhythmia syndrome phenotypes currently included in the Genomics England (GEL) 100K Genomes Project are: long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). These disorders are responsible for much of unexplained sudden cardiac death (SCD), an important cause of death in Western countries. A substantial proportion of arrhythmia syndromes are presumed to be due to rare and common genetic variation, however their genetics are variably understood at present and no condition has been ascertained completely. We will enhance phenotype of arrhythmia patients beyond the limited data currently available in GEL, thus enabling genomic analyses including linkage analysis of trios, case-control burden and polygenic risk score (PRS) analysis. We will undertake novel variant and gene discovery and explore the role of PRSs in expression of disease. The phenotype data generated in our study will be imported into the GEL Research Environment for the benefit of future research projects.

Principal Investigator

Dr Julian Ormerod

Contact us

Email: oxfordheartresearch@ouh.nhs.uk

IRAS number

344994