Duchenne UK

Project title Developing human cardiac precision cut slices as a novel platform for target identification and validation in Duchenne Muscular Dystrophy Budget: £ 82,405

About Duchenne UK

Duchenne UK is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy. The charity has been formed by the coming together of Joining Jack and Duchenne Children's Trust, the two biggest funders of research in the UK in the last three years. Its president is HRH The Duchess of Cornwall. Its patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell.

What is Duchenne Muscular Dystrophy?

Duchenne Muscular Dystrophy is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

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Project objectives

Fibrosis research in DMD is most commonly focused on skeletal muscle, but this study will focus on cardiac tissue. As DMD progresses and fibrosis of the heart develops, cardiomyopathy, conduction-defects (heart rhythm disturbance) and tachyarrhythmias (faster heart rate) may develop.

At the moment there are no anti-fibrotic therapies approved for the treatment of DMD. There is an urgent unmet need to better understand cardiac fibrosis in DMD, to enable the development of new therapeutic targets and compounds.

The study will specifically look at the possibility of developing Precision Cut Slices (PCS) of human cardiac tissue. Such slices would be structurally and physiologically representative of normal human tissue. Current models have only been developed for ‘soft’ tissues such as liver and lung.