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NIHR award £650,000 for research into rare neurodegenerative and neuromuscular diseases
21 February 2014
The National Institute of Health Research (NIHR) Rare Diseases Translational Research Collaboration has awarded a total of £650,000 to extend research into rare neurodegenerative and neuromuscular diseases.
One of the awards was made to the rare neuromuscular theme which is led by Professor Michael Hanna, Director of UCL’s Institute of Neurology, where research projects into Duchenne Muscular Dystrophy (DMD) and inclusion body myositis (IBM) have been funded.
Professor Francesco Muntoni, supported by the Great Ormond Street BRC, will study groups of patients with DMD and measure their particular genetic defects more precisely.
Professor Hanna said: “The DMD programme is going to collect large cohorts nationally through the BRC infrastructure to study their natural history and their genetics accurately. We aim to understand the variation in disease severity and assess variations in treatment response in therapeutic trials."
This will be a valuable step in the translational pathway for DMD patients.
Professor Michael Hanna
The second study will explore IBM, an inflammatory muscle disease depicted by progressive weakness and wasting of both distal and proximal muscles. Professor Hanna explained how BRC work on stratification of patients based on muscle biopsy appearances, clinical assessment and MRI evaluation will be valuable in designing and involving patients in clinical trials.
Based on the BRC’s strong links with industry it is highly likely trials of two new agents will be able to start in the next couple of years.
Professor Michael Hanna
Under the other award Professor Nick Wood, Director of the BRC Neurosciences programme, will investigate the C9orf72 gene. People with the C9orf72 mutation are at an increased risk of developing amyotrophic lateral sclerosis, or of developing frontotemporal dementia.
Professor Wood and his team, made up of a consortium of BRCs including Kings College, led by Professor Chris Shaw and Oxford, led by Professor Kevin Talbot, will study people with known mutations of the C9orf72 gene to allow for in-depth phenotype analyses.
Professor Wood said: “Rather than define phenotypes and chase down genes, we have taken the other route. We will study patients and their families with known mutations, permitting a whole range of complex phenotype questions from a simpler genetic background to be addressed”.
In addition, Professor Wood will develop research into the LRRK2 gene (the greatest known genetic contributor to Parkinson’s disease). This will be led by Professor Wood and Professor Huw Morris, from the UCL Institute of Neurology, and involve input from Kings College and Oxford BRCs.
We hope to find, in much more detail, the range of phenotypes from a particular mutation which will guide clinical practice in particular diagnosis.
Professor Nick Wood
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