Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

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Children's Health

A Keele researcher will embark on a two-year study to identify affordable treatments to help children living with spinal muscular atrophy.

Dr Melissa Bowerman, of Keele University’s School of Medicine, has been awarded £99,959 by theAcademy of Medical Science’s Springboard grant schemeto continue her research into treatments for the devastating childhood disease. To undertake the study, Dr Bowerman will collaborate with Professor Kevin Talbot, Professor of Motor Neuron Biology and Head of the Nuffield Department of Clinical Neurosciences at the University of Oxford.

Spinal muscular atrophy (SMA) is the most common neuromuscular disorder leading to infant mortality and is caused by the loss of function of the survival motor neuron (SMN) gene, which leads to the death of nerve and muscle cells.

Although the first SMN gene replacement therapies have been approved, unfortunately they do not completely cure the disease and success is dependent on a range of factors such as age and disease severity. Furthermore, SMN gene replacement therapies are extremely expensive, which has limited their availability to patients worldwide, including in the UK.

This study will evaluate the therapeutic potential of three commercially available drug candidates with the aim of providing affordable treatments that can complement existing therapies. Ultimately, Dr Bowerman’s aim is to develop muscle-specific therapies that can be combined with existing SMN gene replacement treatments to improve the health of all SMA patients.

We are extremely pleased and honoured to have been awarded this prestigious Academy of Medical Sciences (AMS) Springboard Award, which will help us continue our research aimed at developing new and affordable treatment options for SMA patients. Rare disease charities have been hit extremely hard by the pandemic and such support from AMS is incredibly important for the entire rare disease community.”

Dr Melissa Bowerman, Lecturer in Bioscience, Keele University

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