Neurodegeneration and Brain Injury /
Neuroscience /

Batten Disease / Pediatric Storage Disorders laboratory (PSDL)

Dr Jonathan Cooper PhD, Reader

PSDL logo 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.

Follow the PSDL on Twitter! Join the PSDL Batten disease discussion group on Facebook! (Updated 8th September 2009)

A much quicker way to keep in touch with events in 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.

UK to host NCL2011 International Congress on Batten Disease! (Updated 8th September 2009)

I will be organizing NCL2011, the next international Congress on Neuronal Ceroid Lipofuscinosis (Batten Disease). This will be taking place in the UK at a venue and date that are yet to be announced. I am forming a local organizing committee and we hope to make some arrangements by the end of the year.

PSDL Publications page Updated (Updated 9th October 2009)

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 (Updated 22nd May 2009)

The latest lab news bulletin (posted 22nd May 2009) gives an update on recent events in the lab, our lab open day and other events, comings and goings in the lab and updated lists of publications, conferences and events.

PSDL Lab Open Day Wednesday 17th June 2009

This year’s PSDL Lab Open Day will take place on Wednesday June 17th (a change from the previously advertised Tuesday 16th June). Our theme this year is to provide a ’hot of the press’ update on news from the NCL2009 International Congress on Batten Disease (schedule). As usual you can also look around the labs and ask plenty of questions about what is going on in the PSDL.

NCL2009 International Congress on Batten Disease (Updated 13th July 2009)

NCL2009, the recent international Congress on Neuronal Ceroid Lipofuscinosis (Batten Disease) took place in Hamburg, Germany on 3rd-6th July 2009. The final scientific program for the conference can be found on the NCL2009 website, where you can also download the abstract book. A parent-friendly NCL2009 Conference report written by members of the PSDL can also be downloaded here.

Reading list for MSc Neurosciences Lysosomal Storage Disorders Lectures

The list of recommended references for this year’s Lysosomal Storage Disorders Lectures can be found here.

Funding

US National Institutes of Health (NINDS); The Wellcome Trust, UK; The Royal College of Paediatrics and Child Health, UK; The Natalie Fund, USA; Batten Disease Support and Research Association, USA; Batten Disease Family Association, UK; NCL-Stiftung, Germany.