More than 300 researchers from across the UK gathered in Oxford this week for the annual Alzheimer’s Research UK network meeting. Attendees participated in a wide-ranging programme of talks and debates, and on day one ARUK-funded FTD Research took centre stage, with talks from John Hodges (University of New South Wales), Stuart Pickering-Brown (Manchester) and Adrian Isaacs (UCL).
Prof John Hodges opened the FTD session with an overview of the different clinical, pathological and genetic forms of FTD – an essential talk to bring researchers who do not focus on FTD up to speed with the sometimes confusing nomenclature used in this area! The key message from this talk was how advances in genetics and imaging are allowing for rapid progress in our understanding of FTD, which led nicely into the next two talks which discussed the most recent genetic finding in FTD: C9ORF72.
Prof Pickering-Brown’s lab at the University of Manchester were key contributors to the discovery of the C9ORF72 mutation. They are now trying to understand how this gene causes disease, with a focus on the abnormal repeat proteins produced when the gene is mutated. They have been able to put these repeat proteins into cells that do not normally contain them, and are monitoring the toxicity of different sized repeat proteins. He also presented some tantalizing new data suggesting that the mutation in C9ORF72 is more complicated and more common than originally thought. There is still much to understand about the genetics of C9ORF72 in FTD.
Dr Isaacs’ group at the UCL Institute of Neurology has been investigating the contribution of both repeat RNA and repeat protein to FTD. Using patient brain tissue from carriers of the C9ORF72 mutation, Dr Isaacs’ lab have been able to show a build-up of RNA species, suggesting that these could contribute to the disease. To investigate this further, his team are carrying out an elegant study using flies with a variety of C9ORF72 mutations to understand whether the repeat RNA or repeat proteins are the primary drivers of neuronal death.
Both teams are very busy working on their findings, so we look forward to providing more in-depth coverage of these exciting data soon!
Further information and looking ahead to 2015
Full coverage of the meeting can be found on ARUK’s blog of the event:
Next year’s meeting is hosted by UCL and will be held at Senate House in London on March 10th and 11th 2015. We are looking forward to hearing about more progress in FTD research then!