1
Welcome
Welcome
1
New research projects awarded funding by us this year
2
Gene therapy – delivering new genes and repairing old ones
4
Research news from around the world
8
Focus on hydrotherapy
10
Translational research – the winding road to treatment
12
Clinical trial update
15
The puzzle of research funding
18
Funding our research
19
Updates and highlights from research funded by the Muscular Dystrophy Campaign
20
Partnership project improves exon skipping and develops non-invasive muscle monitoring
22
The sequencing revolution
24
Ask a scientist
27
Spotlight on two of our long-term supporters Professor Alan Emery and Lord John Walton
30
Workshops bring international scientists together
32
Research projects currently funded by the Muscular Dystrophy Campaign
34
Feedback
36
Glossary
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Words in italics can be found in the glossary at the end of the magazine.
More than 70,000 babies, children and adults in the UK have a neuromuscular condition. More than 350,000 people are indirectly affected as family, friends and carers. The Muscular Dystrophy Campaign supports more than 60 different neuromuscular conditions. The Muscular Dystrophy Campaign has pioneered the search for treatments and cures since 1959. Each year we invest more than £1 million into high quality research in the UK and an equal amount is invested into the provision of care and information. We currently fund 26 research projects with each project lasting between one and four years. Many research advances for neuromuscular conditions in the past 50 years have been by Muscular Dystrophy Campaign-funded scientists including vital preclinical research for the Duchenne muscular dystrophy exon-skipping trial.
Dr Marita Pohlschmidt – Director of Research (right), Dr Kristina Elvidge – Research Communications Officer (centre) and Dr Julia Ambler – Grants Manager (left)
The Lay Research Panel discuss the research grant applications
Welcome to the third edition of Target Research, once again bringing news of exciting research advances direct to your home.
buzz word in the scientific world and the article on page 12 will bring you up to speed with what this entails.
It has been a challenging year for our commitment to support research into neuromuscular conditions. However, we are proud to announce that we were able to award funding to seven new cutting-edge research projects in this year’s grant round – you can read about them on page 2. A profound change in how we fund research was also implemented in 2010. A Lay Research Panel was established and our families and supporters are now playing an active part in deciding what research projects should be funded.
Last but not least, we asked artist Jacqueline Donachie whose family is affected by myotonic dystrophy to design the front cover. Her drawing emphasises the importance of the alliance between the scientific community and the families affected by neuromuscular conditions. Together we’re stronger to keep science moving forward to ensure that life-saving treatments will become available in the future.
Internationally the scientific community is advancing fast. A decade ago the completion of a £6 billion project was announced revealing the sequence of the human genome. Thanks to new technology the cost and length of time it takes to sequence a human genome are now a tiny fraction of this first attempt. This means that sequencing an individual’s DNA is set to become an integral part of research into genetic conditions and will revolutionise diagnosis. This definitely has advantages but there are also challenges which are discussed in detail on page 24. The search for treatments is tirelessly continuing. Great advances have been made in gene therapy and you can read about the new technologies on page 4. However, most neuromuscular conditions are rare and the speedy transfer of promising technology into treatments requires the establishment of an international infrastructure. This area of translational research is currently the
A big thank you to everybody who has supported our research programme and contributed to the magazine. We hope you enjoy reading it! The Research Team, Muscular Dystrophy Campaign
Target Research The research magazine for families and supporters of the Muscular Dystrophy Campaign The Muscular Dystrophy Group of Great Britain and Northern Ireland, 61 Southwark St, London SE1 0HL Registered Charity No. 205395 and Registered Scottish Charity No. SC039445
For all magazine enquiries: Kristina Elvidge research@muscular-dystrophy.org Disclaimer While every effort has been made to ensure the information contained within Target Research is accurate, the Muscular Dystrophy Campaign accepts no responsibility or liability where errors or omissions are made. The views expressed in this magazine are not necessarily those of the charity. ISSN 1663-4538
Edited and designed by the Muscular Dystrophy Campaign.