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

Ruth Williams

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Ruth is a freelance science journalist based in the US. She's a regular correspondent for The Scientist, and her work has appeared in The Lancet, Nature, Scientific American Mind, BBC Focus and elsewhere. Twitter @rooph

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• Image by L. Tecedor and B.L. Davidson
• The Children's Hospital of Philadelphia, PA, USA
• Image reprinted with permission from AAAS
• Published in Science Translational Medicine, November 2015