Molecular basis of inherited heart disease v1 347017 30/01/25
Research type
Research Study
Full title
The molecular basis of inherited heart disease: Structural and cellular characterisation cardiac muscle.
IRAS ID
347017
Contact name
Danielle Paul
Contact email
Sponsor organisation
University of Bristol
Duration of Study in the UK
3 years, 5 months, 31 days
Research summary
Inherited cardiomyopathies are the leading cause of sudden death in young adults. Our research aims to understand the underlying biological mechanisms that go wrong in the human heart when a patient has such a condition. The use of high-resolution microscopy techniques gives us the ability to calculate 3D models of cardiac muscle proteins that are known to contain disease causing mutations. By studying the 3D structure of native proteins from tissue from patients with known genetic mutations we can unravel the underlying molecular mechanisms involved.
We intend to study the molecular structure and cellular composition of human cardiac tissue originating from the Sydney Biobank. This tissue was collected from consented patients with known mutations that cause cardiomyopathy. The tissue was extracted from explanted hearts and the control tissue from failed donor hearts.
The reuse of these samples will allow us to advance our knowledge of this progressive disease and importantly further our aim of structure based drug design.REC name
Wales REC 4
REC reference
25/WA/0063
Date of REC Opinion
18 Feb 2025
REC opinion
Favourable Opinion