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Action Medical Research and LifeArc invest a further £610,000 to fight children’s rare diseases

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Children’s charity Action Medical Research and British medical research charity LifeArc are pleased to announce further investment of £610,000 to fund research projects that could lead to new interventions for children with rare disease.

This is on top of joint funding for two research projects awarded in the previous funding round at a total of £499,000. The charities have now committed in excess of £1m for vital research in the area of children’s rare diseases since the joint funding initiative was set up in 2019.

Research in a lab

Thousands of families across the UK are dealing with the devastating fact that their child has a disease for which there is no cure. Action Medical Research and LifeArc want to improve the lives of children suffering with rare diseases and are working together to co-fund UK-based translational, rare disease research projects. This joint funding will be used to support research projects that have moved beyond a basic understanding of disease mechanism into the development of an intervention (therapeutic, diagnostic or device) that will benefit infants, children or young people with rare disease.

The charities’ recent investment, totalling £610,198, was awarded through the 2020 funding round and will support three new research projects. These projects aim to develop treatments or diagnostics in the areas of Duchenne muscular dystrophy (which causes relentless muscle wasting and weakening), hypertrophic cardiomyopathy (a major cause of sudden cardiac death in young people) and pyridoxine dependent epilepsy (a rare form of epilepsy which can be difficult to treat).

Duchenne muscular dystrophy – developing new drug treatments

Led by Professor AJ Russell and Professor Dame KE Davies at the Departments of Chemistry and Pharmacology and Department of Physiology, Anatomy and Genetics, University of Oxford.

Hypertrophic cardiomyopathy in children – improving diagnosis and monitoring

Led by Dr JP Kaski at the Institute of Cardiovascular Science, University College London.

Epilepsy – developing new drug treatments for pyridoxine dependent epilepsy (PDE)

Led by Professor WW Yue.

The hope medical research can bring to parents and families living with rare diseases is difficult to quantify. As one mum explains: “Any new hope is worth fighting for. So that families in the future don’t have to feel that the bottom is dropping out of their world.”


Notes to Editors

For more information on Action Medical Research

Sarah Moss, Communications Director

T: 07754 320281
E: smoss@action.org.uk
W: action.org.uk

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Action Medical Research is a leading UK-wide charity saving and changing children’s lives through medical research. For nearly 70 years we’ve helped pioneer ways to prevent disease and develop treatments benefiting millions of people. Our research has helped to beat polio in the UK, develop ultrasound in pregnancy, fight meningitis and prevent stillbirths. But we urgently need to develop more new treatments and cures for sick babies and children and we can’t do it without you.

Join our fight for little lives today. Charity reg. nos 208701 and SC039284

For more information on LifeArc:

Surinder Maan, Communications Manager

E: surinder.maan@lifearc.org

T: +44 (0)20 7391 2754

lifearc.org Twitter  LinkedIn

LifeArc is a self-funded medical research charity. Our mission is to advance translation of early science into health care treatments or diagnostics that can be taken through to full development and made available to patients. We have been doing this for more than 25 years and our work has resulted in a diagnostic for antibiotic resistance and four licensed medicines. Our success allows us to explore new approaches to stimulate and fund translation.

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