Pediatric Storage Disorders Lab

Welcome to the Pediatric Storage Disorders Lab!

The Pediatric Storage Disorders Lab (PSDL), led by Jonathan D. Cooper, PhD, is the leading international center for the morphological analysis of pathological changes in neuronal ceroid lipofuscinoses (NCL) or Batten disease. We have been investigating which parts of the central nervous system are affected. We also research how different cell types are impacted by disease in mouse models of NCL and in a series of naturally occurring or engineered sheep and dog models. We use this information about NCL disease biology to better target experimental therapies to where they can be most effective.

In addition to pathology, the lab uses a broad range of techniques, including mouse behavior, primary neuron and glial cultures, biochemical and molecular analyses, in addition to enzyme replacement, gene therapy and small molecule approaches. Our work focuses mostly on CLN1, CLN2 and CLN3 diseases, but we also work on other forms of NCL and increasingly on other lysosomal storage disorders. This includes multiple forms of mucopolysaccharidosis (MPS).

Our work highlights that although the different forms of NCL show similar pathology at disease end-stage, they path they take to reach this differs markedly between the forms of NCL. Understanding and knowing these differences is important for being able to target therapeutic interventions better.

Much of our work is done in together with colleagues in the ever expanding group of lysosomal diseases researchers at Washington University, but we also have collaborators across the U.S., Europe and Australia. The PSDL has been involved in many international collaborations to study the efficacy of different pre-clinical interventions in these disorders, leading to several clinical trials and to an approved enzyme replacement treatment for CLN2 disease.

Work in the PSDL is funded by the National Institutes of Health, many Batten disease foundations and our industrial partners.