We are pleased to announce two newly funded NCL research projects and we thank our partners for being “musketeers” and sharing the “All for one and one for all“ principle in the fight together against Batten Disease.

With the help of our co-sponsers the Beat Batten Foundation in the Netherlands, ContactPunt NCL in Belgium, and the W. u. R. Hauschildt and the Bijou Brigitte Foundations in Germany, we can generously co-fund a next project supporting Prof. Monther Abu-Remaileh and his team (Stanford University, USA). Monther received our NCL Research Award in 2020.

The new project builds on earlier discoveries and is entitled “Glycerophosphodiesters (GPDs) in Batten disease: From high-throughput detection assays to their role in disease pathology“. Monther and team showed for the first time that the loss of CLN3 leads to a massive, pathological accumulation of glycerol-phosphodiesters (GPDs) inside the lysosome (see here). In their continuing efforts, the team aims to understand the biochemical basis of lysosomal dysfunction, the molecular basis of neurotoxicity in CLN3, and a direct role of GPDs in perturbing lysosomal phospholipid metabolism. The team will use their knowledge of GPD biology to develop high-throughput assays and novel avenues to lower lysosomal GPD levels with the aim to restore lysosomal homeostasis as possible novel therapeutic approaches for CLN3.

We wish Monther and team lots of success in their endeavor and look forward to novel discoveries that can help boost therapeutic avenues for CLN3.

A second project that we decided to fund is conducted by Prof. Diego Luis Medina and postdoctoral fellow Dr. Claudia La Vecchia at the Telethon Institute of Genetics and Medicine (TIGEM) in Pozzuoli, Italy.

Diego was the winner of our 12th NCL Research Award last year. His new two-year research project is entitled “Preclinical approaches to determine the efficacy of correctors of Batten Disease". The team will use the lysosomal enrichment method (lyso-IP) developed by Monther Abu-Ramaileh et al., to study effects of different drugs at the omics level in CLN3 cell models and the CLN3 lyso-IP mouse model. Goal is to understand in depth drug effects at the lysosomal metabolome and proteome level, to determine what each drug can or cannot achieve, in the hope to better predict which therapeutics may ultimately help CLN3 patients best. Focus will also be on suitable biomarkers that should promote drug development in the clinic.

We wish Diego and Claudia and their team a very productive and exciting research phase and look forward to exciting discoveries!

We`d like to acknowledge particularly the very welcome magnificent great financial support from Edith Waschneck, who deserves a big and heartfelt thank you, for supporting and helping us and making this important project possible and move forward.