Two BRC-supported professors are to lead themes in the National Institute of Health Research’s new Rare Diseases Translational Research Collaboration.
Professor Michael Hanna, Director of UCL’s Institute of Neurology, and Professor Nick Wood, Director of the BRC neuroscience programme, will lead the neuromuscular diseases and neurodegenerative diseases themes, respectively.
The Rare Diseases Translational Research Collaboration is a partnership of NIHR BRCs, biomedical research units and clinical research facilities. The aim is to provide research infrastructure to support translational research into rare diseases. Eleven specific rare disease themes have been identified.
The collaboration focuses on studies into the characteristics of rare diseases, both genetic and environmental. Researchers will have the opportunity to work with genetic sequencing projects like the NIHR BioResource.
Professor Wood said: “There is a still a significant number of genes for rare diseases of the central nervous system to be found. Whilst we would want to know the range of phenotypes for those disorders, fundamentally, what we are more hopeful for is something that is a relatively easy target for manipulation in terms of therapy, and is also an improvement in diagnosis”.
Professor Wood went on: “Industry involvement is driven by a number of factors: firstly, biologically, rare diseases seem simple, where there is one predominant gene or molecule, so that target or pathway can be approached; secondly, although individually rare, they are longstanding diseases, so there is a measurable market for a company to go into, and finally, the regulatory framework is a bit more permissive for orphan diseases”.
