National Call 2019-2020

We are absolutely thrilled to announce that this year we are funding 11 incredible new research projects with GOSH Charity.

The funding, announced ahead of national Rare Disease Day (29 February), is the UK’s largest charitable grant-making scheme of its kind, dedicated to paediatric rare disease research.

GOSH Charity and Sparks invited researchers to apply for funding as part of their ‘national call’. Of the £2.3 million pledged to support research into some of the most difficult and hard to treat childhood diseases, £182,926 has been made available by three condition-specific charities (the Norrie Disease Foundation, Dravet Syndrome UK, and the Myotubular Trust) to help co-fund research into these diseases.

Based at six institutions including Cambridge University, the University of Oxford and the UCL Great Ormond Street Institute of Child Health, the researchers aim to improve diagnosis and develop more effective and kinder treatments for children who desperately need them.

The successful projects include unraveling the drivers of aggressive childhood brain tumours; supporting the UK arm of a global clinical trial to test whether the breast cancer drug tamoxifen could help children with a rare and debilitating muscle disorder; exploration of a novel gene therapy to treat the devastating and life-limiting neurological condition Dravet Syndrome, and developing an implantable and removable liver ‘patch’ that could hold the key to reducing toxic chemical levels in the blood of children with a rare metabolic conditions.

Kiki Syrad, Director of Grants and Impact at GOSH Charity and Sparks charity, said: “Year on year we are amazed by the quality and diversity of applications we receive from researchers across the UK, like our researchers and the life-changing potential their projects have. I am excited to see how this year’s projects progress. Collaboration in the field of rare disease research is of fundamental importance, so I am also delighted that GOSH Charity and Sparks have been able to partner with other rare disease charities through this funding call. We will achieve more together than we could alone and that is crucial if we’re going to drive new, urgently needed ways to diagnose, treat and cure rare diseases that affect children.  

The projects we have chosen to fund this year reflect the ambition of both GOSH Charity and Sparks to drive new tests and treatments from the lab bench to the patient’s bedside. Seriously ill children urgently need new options and our aim is to fund research projects that will ultimately help speed up the diagnosis of rare and complex conditions, and create a step-change in the treatment options available.”

Please see below for a list of our exciting new research projects:

Dr Manavendra Pathania
University of Cambridge
£249, 945
Identifying drivers of aggressive childhood brain tumours that could hold the key to new treatments.

Professor Nicholas Greene
UCL GOS ICH
£249,741
Testing a new compound derived from cinnamon that could help lower toxic levels of ammonia and glycine in children with the rare metabolic diseases non-ketotic hyperglycinemia and Urea Cycle Disorders.

Dr Giovanni Baranello
UCL GOS ICH
£232,432
(£58,108 from Myotubular trust)
Supporting the UK arm of a global trial understanding if the breast cancer drug tamoxifen could help children with the muscle disorder X-linked myotubular myopathy.

Professor Jane Sowden
UCL GOS ICH
£251,332
(£62,500 from Norrie Disease Foundation)
Aiming to replace the faulty gene that causes deafness in Norrie Disease, saving the hearing of boys who are born blind.

Professor Paul Gissen
UCL GOS ICH
£228,757
Aiming to tackle all symptoms of a complex multi-organ disorder, Arthrogryposis Renal Dysfunction and Cholestasis Syndrome (ARC), with two types of gene therapy at once.

Professor Andrew Wilkie
University of Oxford
£169,449
Aiming to unravel why the activity of a gene called FOXD3 is affected, and whether it could offer a diagnostic tool, in some children with craniosynostosis - a condition which causes the bones in the skull to fuse too early.

Professor Nicola Dawes
Oxford Brookes University
£122,771
A lifestyle weight management program for children with conditions that strip the outer protective layer of their nerves, like MS or Neuromyelitis Optica Spectrum Disorder (NMOSD).

Dr Rajvinder Karda
UCL
£249,271
(£62,318 from Dravet Syndrome UK)

Driving a new approach to gene therapy for a rare, inherited and aggressive type of epilepsy called Dravet Syndrome.

Dr Victor Hernandez Hernandez
Brunel University of London
£220,191
Using gene therapy to the eyes and brain to correct the most common genetic mistake that leads to Bardet Biedl Syndrome – a condition that leads to blindness, learning disabilities, and weight gain (and other symptoms).

Dr Hassan Rashidi
UCL GOSH ICH
£101,394
Developing an implantable and removable ‘liver patch’ to provide liver support to patients with the metabolic condition non-ketotic hyperglycinemia.

Dr Kate Baker
University of Cambridge
£197,841
Understanding more, through gene and brain activity testing, about a range of conditions that affect the chemicals that allow nerves to communicate – Synaptic Vesicle Cycling Disorders.