Advances in ncl research: Global perspectives after 200 years
To mark 200 years since the first description of NCL, the NCL Foundation launches a new webinar series highlighting the current state of research on CLN3, one of the most common forms of NCL (also known as Batten disease).
In this series, international researchers, clinicians and family organization representatives give insights into their perspectives on CNL3. They present recent scientific findings and discuss emerging clinical perspectives in the field.
The series is primarily aimed at scientists, especially early-career researchers, and is intended to facilitate entry into the field while fostering international exchange within the NCL research community.
Big Thanks to our supporters: Böttcher Stiftung, DATEV, Marion und Eggert Schlüter Stiftung, Staack Pooltankstellen
Understanding the Fundamentals of CLN3 Juvenile Batten Disease and Finding new Ways to Treat #1
The opening presentation will be given by our Research Director, Dr. Herman van der Putten, with his talk titled: “Understanding the Fundamentals of CLN3 Juvenile Batten Disease and Finding New Ways to Treat.” He will provide an overview of the fundamentals of NCL diseases with a particular focus on CLN3 and present new insights from current research.
Combining High Content Imaging with Repurposing Approaches to Tackle LSDs #2
Prof. Diego Medina, Head of the High Content Screening Facility at the Telethon Institute of Genetics and Medicine (TIGEM), investigates disease-relevant mechanisms in lysosomal storage diseases. This webinar offers an insight into his current research. His team demonstrated that CLN3 deficiency leads to the accumulation of the molecule Gb3 in lysosomes. In a next step, they screened clinically approved small molecules for their therapeutic potential — with tamoxifen emerging as a promising candidate.
CLN3 Disease Disrupts Functional Neuronal Networks #3
In this webinar, Rebecca Ahrens-Nicklas, physician and associate chief for research with the Division of Human Genetics at Children’s Hospital of Philadelphia, presents her research on CLN3 disease with a focus on neuronal networks. Using CLN3 model systems, her group has shown that there are network-level changes in neuronal excitability within the central nervous system. These changes occur very early after birth, before any measurable accumulation of storage material can be detected. Importantly, early correction using AAV gene therapy was able to improve these functional alterations.
CLN3 Disease: Clinical Management & Guidelines #4
In this webinar, Prof. Angela Schulz, pediatric neurologist at the University Medical Center Hamburg-Eppendorf (UKE), provides a comprehensive overview of the clinical management of CLN3 disease (Batten disease).
Following previous videos in the series, which focused primarily on molecular foundations and basic research, this video shifts for the first time to the clinical perspective: What does the disease mean for the everyday lives of those affected, how can symptoms be treated in a targeted way, and what are the key aspects to consider?
Prof. Schulz explains which symptoms and clinical issues are central to CLN3 and which medications and measures are best suited for their management. The video thus offers a structured and practical insight into the care of people living with CLN3.
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