Developing new therapies for Batten disease
|Title||Developing new therapies for Batten disease|
|Institution||University College London|
Associated cell lines
The goal of BATCure is to advance the development of new therapeutic options for a group of rare lysosomal diseases - neuronal ceroid lipofuscinoses (NCL) or Batten disease. The NCLs are a group of devastating and debilitating genetic disorders that mainly affect children, who suffer progressive dementia and motor decline, visual failure and epilepsy, leading to a long period of complete dependence on others, and eventually a premature death. There are no curative treatments in the clinic for any type of NCL. This project will follow a novel integrated strategy to identify specific gene and small molecule treatments for three genetic types of Batten disease; CLN3, CLN6 and CLN7 diseases based on generating new pluripotent stem cell models. We will: 1. Create new pluripotent stem cell models, tools and technologies for developing and testing therapies. 2. Further delineate disease biology and gene function to identify new therapeutic target pathways utilising yeast and pluripotent stem cell models. 3. Identify biochemical therapeutic target pathways, facilitate effective evaluation of preclinical therapies and improve diagnostics. 4. Identify new and repurpose existing small molecule therapy.