Whole Genome Sequencing and Analysis to identify new isease genes for hypertrophic cardiomyopathy

Study code

Lead researcher
Dr Ashley Pritchard

Study type
Data only

Institution or company
Oxford University Hospitals NHS Foundation Trust

Researcher type

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases


Inherited cardiac conditions are a group of diseases that affect the structure of the heart, or the way it conducts electricity. The most common inherited cardiac condition is Hypertrophic Cardiomyopathy, or HCM; it affects about 1 person in 500. HCM causes thickening of the heart muscle, and can lead to heart failure or sudden death.
HCM has a genetic basis and runs in families. In some patients with HCM, it is possible to identify, through NHS genetic testing, a single rare genetic change which explains HCM in that person. However, in more than half of people with HCM, genetic testing does not identify a genetic cause.
Our research seeks to better understand the genetic basis of HCM, including:
• Whether there are rare variants in other genes (in addition to the ones currently tested) which can cause HCM
• Whether there are other genetic changes that act together to increase rick of HCM developing
To do this research we are using data from the genome sequences of contributing participants in the NIHR Bioresource for Rare Disease. We use bioinformatic approaches, comparing very large amounts of genomic data from patients with HCM with the data of participants who don’t have HCM, both in the Bioresource and in other projects. We publish our research, so that other doctors and scientists can use the information to provide better care and advice for patients and families affected by HCM.