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Approved research

Machine learning discovery of genotype-phenotype associations in cardiovascular science.

Principal Investigator: Dr Declan O'Regan
Approved Research ID: 40616
Approval date: February 4th 2019

Lay summary

Inherited heart conditions can affect people of any age and may be life-threatening. For many families the first sign that there is a problem is when someone dies suddenly with no obvious explanation. The cause is a mutation or fault in one or more genes inherited from a parent. It is now recognised that up to 600,000 people in the UK carry one of these faulty genes but we know very little about how this affects the heart or what to do about it. Artificial intelligence uses computers to interpret very complex information and could be the key to understanding how inherited heart disease develops. We will use innovative technology to create a three dimensional model of the heart, obtained from scans in thousands of people, to discover how genetic differences start the transition from health to disease, and what treatments could prove successful.