Genetic Linkage Evaluation in Inherited Cardiac Conditions

Research summary

Inherited Cardiac Conditions (ICCs) are a collection of medical disorders that are associated with life-threatening heart rhythm and heart muscle adnormalities. They demonstrate a familial tendency, and a number of disease-causing gene mutations have already been identified. However, a significant proportion of affected families remain with no associated disease-causing mutation; some families have unexplained differences in the severity or type of disorder that different individuals with the same mutation demonstrate. This represents a knowledge gap that this study aims to fill. We will recruit families with at least one diagnosed member who carries clinical evidence of an ICC. Additional relatives will be recruited following this, who may either appear to carry, or appear not to carry, the same condition. By comparing genes between those who carry the ICC, and those who do not, it is possible to try and identify new mutations responsible for these potentially fatal conditions. Furthermore, the additive effects of two or more genes can be studied, to determine how severity of disease is affected by these mutations.

Principal Investigator

Dr Julian Ormerod

Contact us

Email: oxfordheartresearch@ouh.nhs.uk

IRAS number

53663