NCL - Stiftung (Wales)
The non-profit NCL Foundation was founded in 2002 to support children with Neuronal Ceroid Lipofuscinosis (NCL), a.k.a. Batten disease.
Children with Batten disease turn blind at school age and develop seizures, motor problems and dementia. They usually die in their twenties. The NCL Foundation initiates, supports and funds research projects around the globe and encourages the exchange of scientific expertise on NCL by connecting professionals and research groups from relevant fields.
In 2020/2021, the Eurofins Foundation funded the research project "Dissecting the CLN3 function". CLN3 is the affected protein in juvenile NCL. All existing CLN3 assays are currently not sufficiently developed form the bases of a proposal for NCATS proposal, a programme funding assay development, in the US. This project will help pave the road for a future application. In addition to helping young patients and their families, many people worldwide may benefit from this important research, as there are overlaps between childhood dementia (NCL) and adulthood dementia (e.g. Alzheimer).
In 2021/2022, the Eurofins Foundation provided another research grant to the project "Identifying druggable pathways that affect pathological globotriaosylceramide (Gb3) accumulation in Batten disease" carried out by Dr Diego Medina's laboratory (TIGEM, Italy).
Dr Medina proposes using an approach based on siRNA-mediated loss of function studies using high content imaging. Phenotype analysis of Gb3 accumulation will be performed using a cell-based assay. This study has high biological relevance as the mechanism of pathological accumulation of Gb3 in Batten Disease is still unknown, while the devastating outcomes of the disease represent a significant unmet medical need.
This project contributes to the following United Nations' Sustainable Development Goal
