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Pediatric storage disorders

Batten Disease / Pediatric Storage Disorders laboratory

Professor Jonathan Cooper PhD

Each form of Batten disease is the result of inheriting two mutated copies of genetic material, ultimately causing the devastating effects of these disorders. Starting at different ages between 6 months and 9 years old, children first develop blindness or seizures and then inevitably die. We are working to discover precisely how Batten disease affects the brain by studying where and when particular brain cells die. This information not only helps us understand the disease process, but also test whether potential treatments will be successful.

Every cell within the body contains ‘lysosomes’, small compartments that normally act as waste disposal units to break down waste products. However, in ‘lysosomal storage disorders’ (LSDs) this process fails and results in the build up and storage of waste material. There are more than 40 of these fatal diseases that are individually rare, but collectively affect approximately 1 in 7,000 children. Unfortunately the vast majority of these diseases are incurable with profound effects upon the brain and affected children suffer a long period of disability and a premature death.

PSDL Publications page

It’s been a busy and successful year for publications from the lab. You can catch up with our latest papers on the PSDL publications page.

Most recent PSDL Lab News, Follow the PSDL on Twitter! Join the PSDL Batten disease discussion group on Facebook!

The best way to find out the latest news from the lab is to follow us on Twitter or to join the PSDL Batten disease discussion group on Facebook. Both are much easier to update than these webpages and will give you a more reqular and less formal take on life in the lab, our latest news and publications etc.

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