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Home » Rare diseases » How a collaborative approach will help tackle rare diseases

Dr Kiki Syrad

Director of Impact and Charitable Programmes, GOSH Charity

We have come so far in rare disease research and treatment, but there is still so much more to do. Only by working collaboratively can we transform the lives of children living with rare diseases.

From its beginnings as a townhouse with two physicians in 1852 to today’s life-saving advances in gene therapy, Great Ormond Street Hospital (GOSH) has transformed the lives of millions of seriously ill children. Without charitable funding and the help of research partners and supporters, this would not have been possible.

Innovations in rare disease research

With partnerships forming a vital part of our charity’s five-year strategy, it’s important we work collaboratively to fund pioneering paediatric research for children.

This Rare Disease Day we celebrate our work with one of our key research partners, LifeArc – an independent medical research charity dedicated to transforming promising life science ideas into life-changing medical breakthroughs for patients. Together we fund projects to accelerate progress of new discoveries, so they can be developed into the next generation of diagnostics, treatments and cures for rare and complex diseases. By harnessing the expertise and resources of both organisations, we have helped fund seven studies over the last two years.

As many as five children a day are losing their lives to rare diseases, there’s much more we can do.

Professor Jane Sowden and Dr John Counsell of UCL Great Ormond Street Institute of Child Health are just two recent awardees who have benefitted from the partnership. Professor Sowden and her team are developing a cutting-edge stem cell therapy for children with inherited eye diseases. By replacing the damaged light-sensing cells in the retina at the back of the eye, this therapy has the potential of restoring sight and offering hope of a treatment.

Dr Counsell’s pioneering study seeks to develop a novel gene therapy for children with maple syrup urine disease (MSUD), a serious inherited condition caused by a harmful build-up of substances in their blood and urine, which can severely impact brain development if untreated. Dr Counsell and his team hope that gene therapy could lead to the first ever cure for children affected by MSUD and pave the way for the development of treatments for similar conditions.

Brighter future for children with rare diseases

We have come so far, but with as many as five children a day losing their lives to rare diseases, there’s much more we can do. We know we can achieve more for children when we work with others and thanks to valued partners, alongside the generosity of our supporters, we can continue to invest in the latest medical research and change children’s lives for the better.

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