9th JNCL Young Investigator
In 2023, Hamburg in Germany was center stage for NCL research, clinical progress, and global patient groups. Thanks to great support the NCL Foundation received from sponsors including the Stiftung Bostelmann (DE), Stichting Beat Batten! (NL), Marriott Hamburg, Theranexus (FR), ForeBatten Foundation (US), Friends of Britain e.V. (DE), Lions Club Deidesheim (DE), Reinhard Frank-Stiftung (DE), and Contactpunt NCL (BE), we were able to host the 9th JNCL Young Investigator Meeting that took place at the Hamburg Marriott Hotel from September 24-25.
More than twenty young investigators presented their work and covered a wide range of CLN3 research topics including protein structure, protein-protein interactions, protein isoforms and transcripts, CLN3 function, CLN3 deficiency-associated defects in lysosomal phospholipid catabolism, synaptic biology, microglial function, CLN3 function in organs outside the nervous system, zebrafish and minipig models, biomarker discovery, high content imaging, phenotypic approaches to discover new therapeutic targets, and antisense oligonucleotides to treat CLN3 Batten disease. Plenary speakers were Dominic Winter (University of Bonn, DE) and Rebecca Ahrens-Nicklas (University of Pennsylvania, US). Dominic presented an overview of technologies to characterize the lysosomal proteome by mass-spectrometry, while Rebecca gave an overview and discussed challenges and opportunities of therapy development for CLN3 disease. Recently we have seen great progress in understanding the fundamentals of CLN3 disease. With the help of lysosomal omics and translational approaches, we should be able to find therapeutic options that are more predictive and stand a better chance to be disease modifying.
NCL Global Patient Group Meeting
On September 26, the NCL Foundation, BDSRA, and UKE organized a NCL Global Patient Group Meeting with participants from the BDFA (UK), BDSRA (US & AU), Beat Batten! (NL), BBDF (US), ForeBatten (US), Bobby and Robine Foundation (NL), NCL Gruppe Deutschland (DE), NCL Group Finland (FI), and NCL Denmark (DK). The goal was to get to know each other and discuss collaborative opportunities. In the afternoon patient group leaders met with industry representatives (BioMarin, JCR Pharmaceuticals, Neurogene, Regenxbio, Theranexus, and UT Southwestern) who briefly presented their NCL activities, followed by Q & A sessions.
Picture, from left: Ronald Jansen, chairman of Stichting Beat Batten!, NL, Frank Stehr and Herman van der Putten (both NCL Foundation) and Addy Rouwenhorst, member of the Beat Batten! management team.