LifeArc and children’s charity Action Medical Research run an annual joint funding round of up to £1 million to support UK-based translational research projects that could lead to new interventions for children with rare diseases.

The 2021 funding round is now closed to new applicants

The joint fund has run three rounds of funding since it was established in 2019, with up to £1 million in support made available in each funding round. LifeArc and Action Medical Research aim to run an annual funding round, typically to open in the first half of the year. Researchers interested in applying to the next round of funding can keep up to date with our funding announcements by following us on LinkedIn or Twitter.

Joint funding to support translational research into children’s rare disease

LifeArc and Action Medical Research want to improve the lives of children suffering from rare diseases. Our co-funding aims to accelerate promising, cutting-edge medical research that could have a significant impact on the treatment of infants, children and young people (CYP) with any of the 7,000+ heterogeneous conditions collectively called ‘rare disease’.

Find out more about Action Medical Research

Funding available

The fund aims to support a small number (2-4) of high-quality projects for up to three years, providing a maximum of £250,000 per project. The joint fund supports biomedical research projects from across the UK that have moved beyond a basic understanding of rare disease mechanism into the development of an intervention, such as a therapeutic, diagnostic, or device. Funding is subject to the achievement of project milestones.

Application requirements

Applications in 2021 needed to:

  • address a significant, unmet need for CYP with rare disease
  • have a strong scientific rationale
  • be target-driven, with a credible delivery plan and milestones
  • have a clear route to patients

The following activities were eligible for support:

  • developing candidate therapeutic entities (e.g. drug discovery)
  • pre-clinical testing of novel therapeutic entities in vitro or in vivo
  • pre-clinical validation for repurposed therapeutics
  • early-phase clinical trials (phases 1/2) of novel therapeutics or existing therapeutics repurposed for a new indication
  • developing and testing diagnostics in a pre-clinical or early-phase clinical research setting
  • developing and testing novel medical devices

A high proportion of paediatric rare diseases are monogenic and poorly served by more traditional treatment options. Many of these conditions may benefit from newer gene therapy approaches. Eligible applications could therefore include projects focused on the development of targeted gene therapy or vectors, such as adeno-associated virus (AAV) or lentiviral (LV).

All modalities of intervention were eligible for support from the scheme, including small molecules, peptides, antibodies, cell and gene therapy, vaccines, diagnostic or prognostic approaches (such as biomarker identification and/or validation, improved imaging or screening techniques), medical devices, and psychological interventions.

Application eligibility

Projects must be led by research-active professionals based at UK universities, hospitals or research institutes. Collaborations with industry and other academic partners are encouraged where relevant to the project. Where appropriate, there must be plans to put in place suitable collaboration agreements with industry partners or other academic collaborators. Lead applicants may only submit one application per round.

Application and review process

In 2021 there was a two-stage process application and review process.

  1. Applicants were required to submit an outline application form to Action Medical Research which was reviewed by the Action Medical Research Scientific Advisory Panel. Applications for co-funded projects had to meet the guidelines on the Action Medical Research website. The specific outline application form for this call contained additional questions for translational research. Applicants could only submit one application per round.
  2. Successful applicants from the outline stage will be invited to complete a full application for external peer review and further review by the panel. Full applications will be in open competition with other applications in the grant round.

For details of the Scientific Advisory Panel for the 2021 funding, please go to action.org/people and scroll down to ‘Scientific Advisory Panel for joint Action Medical Research/LifeArc applications for autumn 2020 awards’.

Deadlines and outcomes

  • The deadline for submission of applications for the 2021 funding round was 9th June 2021.
  • Successful applicants were notified in September 2021 and the deadline for full applications is expected to be 10th November 2021.
  • Final funding decisions are expected to be announced in July 2022.

Keep up to date with our funding announcements by following us on LinkedIn or Twitter.

2020 funding round

Three projects received funding in 2020 and started from July 2021

Duchenne muscular dystrophy

Title: Small molecule AhR antagonists for the treatment of Duchenne Muscular Dystrophy

Project team: Professor Angela Russell, Professor Dame Kay Davies

Location: University of Oxford, Departments of Chemistry and Pharmacology and Department of Physiology, Anatomy and Genetics

Duchenne muscular dystrophy (DMD) is an inherited disease that mainly affects boys, causing muscle weakness and wasting. Symptoms are often first noticed in early childhood and deterioration over time means most of those with the condition develop heart and breathing problems. These symptoms often have life-threatening complications and there is currently no cure. Around 100 boys are born with DMD in the UK each year.

Children with the condition have a faulty gene which means they don’t produce enough dystrophin, a protein that is vital in protecting muscles.

The project team, led by Professor Angela Russell and Professor Dame Kay Davies, hope to develop a new treatment based on molecules that increase levels of utrophin, a protein related to dystrophin. They are building on earlier work in developing a drug, ezutromid, which was shown to increase the amount of utrophin in muscle cells. A clinical trial of ezutromid in boys with DMD showed promising results after 24 weeks of treatment. However, sadly it was not effective over a longer period and the pharmaceutical company involved ceased development.

The team are now testing alternative molecules that could lead to higher levels of utrophin production, potentially leading to a utrophin replacement therapy that could slow the disease’s progress.

Find out more on the Action Medical Research website.


Hypertrophic cardiomyopathy

Title: Using proteomic approaches to investigate the role of plasma and urine biomarkers for disease stratification in childhood hypertrophic cardiomyopathy

Project team: Dr Juan Kaski, Dr Kevin Mills, Dr Wendy Heywood

Location: University College London, Institute of Cardiovascular Science

Other locations: UCL Great Ormond Street Institute of Child Health, UCL Centre for Inborn Errors of Metabolism; Great Ormond Street Hospital for Children, Centre for Inherited Cardiovascular Diseases

Hypertrophic cardiomyopathy (HCM) causes thickening of the heart muscle and is associated with sudden death in young people. Current treatments aim to manage  symptoms, screen relatives and prevent complications – including sudden death, heart failure and stroke.

However, we currently do not have any treatments targeting the underlying molecular processes or preventing the development of the disease in at-risk individuals.

To develop such therapies, we have to understand the early features of the condition and how it progresses over time. We need simple, non-invasive tests to achieve that.

Using a simple blood test, the team had developed a set of biomarkers that identifies adults with HCM and identifies the severity of their disease.

Dr Juan Kaski and his team are using a similar approach in this study to:

  • validate the new adult biomarkers in children with HCM and in pre-symptomatic gene carriers
  • identify new markers specific to children with HCM and gene carriers without evidence of disease
  • match the findings from the biomarker tests with clinical features of disease severity and progression.

This study takes advantage of the only paediatric HCM bioresource in the UK at GOSH and UCL and state of the art laboratory techniques at the UCL Institute of Child Health. If successful, this project may result in faster and cheaper diagnostic tests and the development of new tools to monitor disease progression and treatments, with the potential to improve clinical outcomes and potentially significant cost benefits to the NHS.

Find out more at: Epilepsy: developing a new drug treatment for a rare and debilitating form of the condition | Action Medical Research


Pyridoxine dependent epilepsy (PDE)

Title: Developing small molecule inhibitors for a rare childhood seizure disorder (Pyridoxine dependent epilepsy)

Project team: Professor Wyatt Yue, Professor Paul Brennan, Dr Cassandra Adams

Locations: Newcastle University Biosciences Institute Centre for Medicines Discovery; University of Oxford

Pyridoxine dependent epilepsy (PDE) causes frequent seizures that begin soon after birth or during infancy.

A faulty enzyme, ALDH7A1, is unable to play its usual role of breaking down an amino acid called lysine. As a result, toxic chemicals build up in the child’s body. These chemical imbalances lead to seizures and – in some children – delayed development and learning disabilities.

Current treatment focusses on seizure control but does not address the long-term neurological and cognitive causes. Led by Professor Wyatt Yue, the team aims to develop a therapy that reduces the build-up of the toxic chemicals in the body.

Professor Yue and his colleagues hope to achieve that by reducing the activity of another enzyme also involved in lysine break-down, an approach known as substrate reduction therapy. The approach has been successfully applied to other rare diseases. The team are making tiny changes to the chemical structures of several potential drug compounds they have already identified.

They will then test the effects of the most promising drug candidates in cell studies, selecting the best ones for potential future development into treatments for patients.

Find out more on the Action Medical Research website.


2019 funding round

Two projects received funding from the 2019 round and both are underway

Childhood leukaemia

Title: Synergistic ablation of MLL-Fusion onco-proteins as a novel acute leukaemia therapy.

Project team: Dr Owen Williams, Dr Jasper de Boer, Professor Ajay Vora, Professor Adele Fielding

Location: UCL Great Ormond Street Institute of Child Health, Developmental Biology and Cancer Programme

Other locations: Great Ormond Street Hospital, Haematology and Oncology Department; University College London, UCL Cancer Institute, Research Department of Haematology

Some sub-types of childhood leukaemia have much poorer outcomes than others. One such subtype seen in infants is caused by a genetic mutation which occurs when two or more genes fuse together, causing the affected blood cells to make a ‘fusion protein’ that drives the disease. New treatments are urgently needed as there are no effective treatments available.

The research team recently discovered a potential new treatment using two drugs which combine to destroy the fusion protein. Laboratory studies have shown that this combination of drugs halts the cancer’s progress. Led by Dr Owen Williams, this project is investigating the potential impact of this targeted treatment in pre-clinical models and the team ultimately hopes to take the potential treatment to a clinical trial.

Find out more on the Action Medical Research website.


Hunter syndrome

Title: Improving blood brain barrier crossing peptides in lentiviral-mediated stem cell gene therapy for Hunter disease.

Project team: Professor Brian Bigger, Dr Shaun Wood

Location: The University of Manchester, Division of Cell Matrix Biology and Regenerative Medicine

Mucopolysaccharidoses (MPS) are genetic diseases found in children who lack an enzyme that breaks down complex sugars. MPSII, also known as Hunter syndrome, affects many organs in children born with the condition and reduces life expectancy.

Complex sugars building up in the brain mean that the children experience severe progressive mental decline and behavioural difficulties.

New treatments are needed urgently as current therapies do not treat the brain symptoms.

Enzyme replacement therapy could potentially deliver the missing enzyme to the brain.

However, the human brain is protected by a blood brain barrier which makes it difficult for the enzyme to enter the brain.

Professor Brian Bigger and his colleagues have managed to treat Hunter syndrome symptoms in other parts of the body with an approach that involves taking stem cells from bone marrow, inserting a correct copy of the IDS gene, and transplanting them into the child. These cells then produce the IDS enzyme, treating the symptoms of the disease.

Unfortunately, so far they haven’t been able to get high enough levels of the enzyme into the cells to have an impact on brain symptoms.

They are now adding a small protein tag that helps the enzyme to cross the blood-brain-barrier, which protects our brains, to see if it boosts levels of the enzyme in the brain.

If it does, it could pave the pave the way for a future clinical trial in boys with Hunter syndrome.

Find out more on the Action Medical Research website.