Pathological mechanisms in sphingolipidoses

Although a lot of our work is focused on Lewy body diseases, we also study a range of brain diseases caused by the build up of fats in the brain, in particular fats known as "sphingolipids". We initially started studying these diseases because many of these fats are thought to contribute to Lewy body diseases, but this has since developed into an active area of interest for us. These diseases are especially devastating as they are severe degenerative diseases of the brain but they usually occur in very young children, sometimes babies, and tragically often cause them to die young, often in childhood. 

Many people study sphingolipidoses but as these are genetic diseases that are caused by a single gene, most research focuses on the gene in question and the processes that are affected by its dysfunction. We do things a little differently and use our experience from more common diseases, such as Lewy body diseases, and approach sphingolipidoses like we would any other disease. This means that we don't just focus on processes known to be abnormal in these diseases, but we instead look at brain tissue and try to work out what is different compared to those without such diseases. This means we often find new things, or things we didn't expect to find, and we hope this helps us develop knowledge that could one day lead to better treatments.

At the moment, we have studies on-going on metachromatic leukodystrophy (MLD) and Krabbe disease. Both of these conditions cause severe damage to the brain and mostly affect children, usually leading to their deaths in childhood.