Wednesday, 29th October International Congress on Neuronal Ceroid Lipofuscinoses 2025

• Batten disease genes drive the biosynthesis of bis(monoacylglycero)phosphate - Kasparas Petkevicius
• Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease. - Christopher Minnis
• CLN3 palmitoylation is required for its role in sorting - Stephane Lefrancois
• Histopathological characterization of brainstem degeneration in CLN1, CLN2, and CLN3 mouse models - Grace Robinson Kick
• Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease - Stephan Storch

All Speakers from the session will take part in the Q&A panel

• Pieces of a puzzle: How does CLN3 disease impact the blood-brain barrier? - Adelene SL Chiam
• Patient-derived retinal, cortical and neuromuscular junction organoids reveal tissue-specific pathomechanisms in CLN3 Batten disease - Mirta ML Sousa
• Single cell RNA-sequencing reveals the impact of CLN1 disease and treatment upon microglia in the brain and spinal cord. - Katherine N Lyons
• Structural studies of selected Batten disease proteins   - Tereza Vecerkova
• Key genes in the RQC pathway affect CLN10-related neuromuscular degeneration in a Drosophila model - Zhihao Wu

All Speakers from the session will take part in the Q&A panel

• Neuronal Ceroid Lipofuscinosis – Is there a path to cure? - Mathias Schmidt

• Opening Remarks from Maree McCabe AM (Member of the Order of Australia) - Expanding Horizons: Batten Disease in the Wider Neurological Landscape - Maree McCabe
• Heterozygosity of lysosomal enzyme genes and Alzheimer’s disease - Mark Sands
• Investigating drug repurposing in childhood dementia using patient-derived cell models - Elina Casoli
• Cell-Type Resolved Protein Atlas of Brain Lysosomes Identifies SLC45A1-Associated Disease as a Lysosomal Disorder - Julia C. Heiby
• Head-to-head comparison of existing and novel UGCG/GCS inhibitors in human cell models of lysosomal storage disorders.  - Anthony Cook
• An mRNA Gene Therapy Platform for Childhood Dementia: Initial findings with Niemann-Pick C and ongoing challenges - Ya Hui Hung
• Shared genetic networks driving dementia across the lifespan. - Karissa Barthelson

• Systemic AAV9 gene therapy mitigates neuromuscular junction degeneration and muscle atrophy in CLN1 disease - Ewa A Ziółkowska
• Efficacy of AAV-mediated gene therapy in a sheep model of CLN1 disease - Jonathan D Cooper
• Cardiac dysfunction in a CLN2 Batten disease mouse model - Jill M Weimer
• Dual CLN5/CLN6 gene therapy improves clinical outcomes in a large animal model of CLN6 Batten Disease - Nadia L Mitchell

All Speakers from the session will take part in the Q&A panel

• The Collective Burden of Childhood Dementia: A Unified Approach For Greater Awareness and Action - Kristina L. Elvidge
• Possible impact of nanoplastic particles on the Drosophila Batten disease models - Chao Wang
• From "We Don't Fit" to Priority Actions: A Comprehensive Study of Care and Support Priorities for Childhood Dementia - Joanne Kershaw
• Investigating the role of the ubiquitously expressed thioesterase PPT1 - a proposed multi organ morphological and molecular study to inform therapeutic targeting - Zak Vincent
• Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom - Joanna Nightingale
• Long-term and large scale analysis of NfL and GFAP as biomarkers in CLN2 patients treated with cerliponase alfa: Strengths and limitations - Christian Posern
• Brainstem auditory evoked potentials (BAEP) in CLN2 patients under treatment with cerliponase alfa. - Christian Posern
• LncRNA regulation of lysosome function in brain disease   - Priyal Dass
• Assessing the contribution of the gut microbiome to CLN2 disease: effects of VNAM treatment upon central and enteric nervous system disease - Ewa A Ziółkowska
• Batten disease iPSC-derived neurons and astrocytes as a screening platform for repurposed drugs - Lotta E. Oikari