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Rare Disease Day Battling Batten Disease
29 February 2016

Battling Batten Disease

Batten disease is a devastating and ultimately fatal neurodegenerative condition that generally afflicts young children. Previously healthy kids begin to suffer impaired vision, behavioural changes, learning difficulties, and often seizures. A decline in motor skills follows and eventually the children, who often don’t reach their tenth birthdays, become completely reliant on their carers. Thankfully Batten disease, which can be caused by mutations to the TPP1 gene, is extremely rare. However, this also means the condition doesn't receive the sort of research interest and funding as, say, cancer or heart disease. Nevertheless progress is being made, and this Rare Disease Day we celebrate a recent gene-therapy breakthrough achieved in dogs with the disease. The brain slice pictured is from a dog treated with the therapy and shows the gene’s product, TPP1 (blue), inside neurons. Therapy both extended life-span and improved cognition in the dogs, offering hope for future human trials.

Written by Ruth Williams

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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