Medical research charity LifeArc and Great Ormond Street Hospital Children’s Charity (GOSH Charity) have jointly awarded more than£1.3 million of funding to help four GOSH researchers drive their discoveries towards new tests and treatments to tackle rare diseases affecting children.

Four researchers based at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust have received project grants that aim to translate research discoveries to develop interventions for a range of rare, but severe, conditions.  

The projects will look into the following four conditions:

• Maple Syrup Urine Disease (MSUD): Professor John Counsell is developing an innovative gene therapy for children with MSUD – a rare inherited metabolic illness that can cause irreversible brain damage or lead to need for a liver transplant, and requires lifelong care.
• Cone-rod dystrophies (CORDs) and cone dystrophies (CODs): Professor Jane Sowden is developing a new treatment for a group of inherited eye diseases affecting the light-sensing cells in the retina - a group of genetic eye diseases that lead to gradual loss of sight.
• Denys-Drash syndrome (DDS): Professor David Long is aiming to develop a new treatment for children with a rare genetic syndrome that affects the kidney in early childhood. The disease can lead to kidney failure in very young children and can often be fatal.
• Lennox-Gastaut syndrome (LGS): Mr Martin Tisdall is aiming to progress a potential new treatment for LGS - a severe type of epilepsy that causes regular seizures that can affect a child’s quality of life and brain development.
   

This is the second tranche of grants awarded by the joint LifeArc & GOSH Charity Fund, which provides funding for translational research projects focused on developing interventions to improve the lives of children with rare diseases.  

Dr Catriona Crombie, LifeArc’s Associate Director Technology Transfer and Philanthropic Fund Manager said: “We are delighted to partner with GOSH Charity to fund these four innovative research projects, bringing the total number of projects supported through this joint funding scheme to seven. Through this collaboration, we hope to accelerate the delivery of life-changing tests, treatments and cures for children affected by rare diseases and their families.”

Dr Kiki Syrad, Director of Impact and Charitable Programmes at GOSH Charity says: “Working in partnership to fund pioneering paediatric medical research is absolutely central to our ambition, which is to transform the lives of seriously ill children. I am thrilled that, thanks to the generosity of our amazing donors and supporters, we have been able to make grants to these four fantastic projects. These, along with the other projects we have jointly funded alongside LifeArc, will offer much needed hope to many seriously ill children.”