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Approved Research

Genome wide association study of hypertrophic cardiomyopathy

Principal Investigator: Professor Connie Bezzina
Approved Research ID: 42169
Approval date: September 29th 2020

Lay summary


Understanding the genetic cause of hypertrophic cardiomyopathy (HCM).

Scientific rationale:

HCM is a genetic disease of the heart muscle characterized by thickening of the heart. HCM affects 1 in 500 individuals and is the leading cause of sudden death in young apparently healthy individuals, including athletes. Hundreds of different mutations causing HCM have been identified in recent years. Yet, nearly half of cases remain unexplained. Recent scientific discoveries from different groups suggest that HCM has a complex genetic transmission (much like heart attack, diabetes, height). We will combine genetic data from the UK biobank with other datasets to identify genetic markers of HCM.

Project duration: 24 months

Public health impact: A better understanding of the genetics of HCM could lead to better therapy and prevention of catastrophic complications related to this disease, ultimately saving lives.