Dr Tom Wishart’s research into this neurodegenerative disease aims to understand, and ultimately slow down, disease progression. Image Batten disease is a group of autosomal recessive neurodegenerative disorders caused by mutations affecting the function of the lysosome (the waste disposal system of the cell). These conditions begin at a range of ages from childhood to early adolescence and currently affect 100-150 children, young people and adults in the UK. Cells of the nervous system appear to be particularly vulnerable to altered lysosome function so these diseases tend to present as neurological. There are a range of changes taking place in the nervous system but an early pathological target is the synapse (a crucial point of communication between nerve cells). Symptoms include progressive loss of vision resulting in blindness, complex epilepsy, loss of control of movement and decline in speech. Ultimately, the child becomes completely dependent on families and carers for all of their needs. Currently there is no available cure for any form of the disease and death is inevitable. Depending on the specific diagnosis of the disease it may occur anytime between early childhood and young adulthood, but research is ongoing for possible methods to alter the progression of the disease. Tom Wishart at The Roslin Institute is collaborating with others in the field to understand the mechanisms underpinning the degenerative processes. They aim to identify novel therapeutic targets that could be used to modulate the progression of the disease. We want to cure these diseases and there are very good people and groups looking to replace the function of the causative mutation, but that must be done separately for each individual form of the disease. Because all of these conditions, regardless of mutation, show very similar pathologies we are working to understand the processes underpinning degeneration and look for commonalities which could prove useful for targeting across a range of disease variants. It is not fancy and it is not quick, but this information is critical to help inform our understanding of Batten disease and other neurodegenerative conditions. Tom WishartThe Roslin Institute Funding for research for Batten disease is limited and so the Batten Disease Family Association, BDFA, www.bdfa-uk,org.uk is promoting an awareness day on Friday the 3rd June. Everyone is invited to wear something orange that day. Get involved! If you are wearing orange let us know by taking a picture and tweeting us @roslininstitute and using #battendisease
