LifeArc, a UK-based medical research charity, and children’s charity Action Medical Research, mark Rare Disease day 2021 by announcing a total commitment of over £1m for research in children’s rare diseases. This joint fund supports UK-based researchers to progress high-quality scientific projects that could potentially improve the lives of children living with a rare disease[i].

LifeArc and Action Medical Research have most recently committed £610,000 to support three academic research projects will help move beyond a basic understanding of disease mechanism into the development of an intervention that could deliver real-world benefits to infants, children and young people with rare disease. 

Dr Catriona Crombie, Head of LifeArc’s Philanthropic Fund said: “Our partnership with Action Medical Research demonstrates our focus on improving the lives of people living with rare diseases. Through our collaboration we can continue to fund high quality research into rare diseases in children and provide our expertise to translate science into vital new interventions.”

The three projects, funded through the 2020 funding round, 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).

Sarah Moss, Communications Director at Action Medical Research said: “We’re really pleased to announce our continued working together with LifeArc; research in this area is so important to help the thousands of families who are dealing with the daily challenges that rare diseases bring.”


Notes to editors

The further investment of £610,000 is on top of joint funding for two research projects awarded in the 2019 funding round at a total of £499,000.

To date, LifeArc has awarded around £8m to support innovation in rare diseases. In addition, LifeArc has committed a further £8m to support delivery of new gene therapy treatments through a unique partnership with the MRC, the largest funder of gene therapy research in the UK. Here, LifeArc is one of three partners who are funding a network of cutting-edge facilities to enable academic progress their novel gene therapy research into early-stage clinical trials and bring a new generation of medicines in healthcare.

A disease is defined as rare in Europe when it affects fewer than 1 in 2,000 people. There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world each supported by family, friends and a team of carers that make up the rare disease community.

i. Available at Accessed 26 February 2021

Media contacts

Surinder Maan
Communications Manager, LifeArc

Sarah Moss
Communications Director, Action Medical Research
07754 320281

Notes to editors

About LifeArc

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. We have our own drug discovery and diagnostics development facilities, supported by experts in technology transfer and intellectual property who also provide services to other organisations. Our model is built on collaboration, and we partner with a broad range of groups including medical research charities, research organisations, industry and academic scientists. We are motivated by patient need and scientific opportunity.

Two funds help us to invest in external projects for the benefit of patients: our Philanthropic Fund provides grants to support medical research projects focused on the translation of rare diseases research and our Seed Fund is aimed at start-up companies focused on developing new therapeutics and biological modalities.

Find out more about our work on or follow us on LinkedIn or Twitter.

About Action Medical Research

Action Medical Research is a leading UK-wide charity saving and changing children’s lives through medical research. For more than 65 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.

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