The lysosomal storage diseases are a group of >50 inherited metabolic diseases that are individually rare but as a group are believed to occur at a frequency of ~1:5,000 live births. They predominantly affect children, and are the most common form of childhood neurodegenerative disease, but adult forms are also known and increasingly being diagnosed. This family of diseases constitute an area of unmet clinical need with few therapies available for these life limiting and life shortening diseases.
Although rare, research into this group of diseases is incredibly important. Development of treatments improves the quality of life of both patients and their families whilst reducing the impact on healthcare providers. Furthermore, research into these diseases have provided us with insight into fundamental cellular functions and associations with other more common diseases of ageing. Perhaps by understanding common mechanisms between these diseases we may one day facilitate more efficient development of therapies for both groups. That is one of the main aims of our research laboratory.