Identifying and treating CLN3 disease outside the central nervous system CLN3 disease causes profound neurological deficits in affected children, but less well recognized are a variety of peripheral neuromuscular and gastrointestinal problems. We hypothesized that in addit...

Pleased to share the latest pre-print from the PSDL highlighting enteric and neuromuscular disease & myopathy in CLN3 mice treated by gene therapy. From talented PSDL postdoc Ewa Ziółkowska. Work done with Bob Heuckeroth and Alison Snyder-Warwick #battendisease
www.biorxiv.org/content/10.1...

Looking forward to the 2025 WORLDSymposium on Lysosomal Diseases starting tomorrow. Ewa Ziółkowska (PSDL postdoc) has won a very well-deserved Young Investigator Award and will present her work on dysphagia (swallowing problems) #battendisease

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models Lysosomal storage disorder mice show bowel transit defects and profound loss of enteric nervous system neurons that can be prevented by gene therapy.

Delighted to see our CLN1 & CLN2 Enteric Nervous System gene therapy paper published in Science Translational Medicine today! Big team effort with many great colleagues at Wash U and Bob Heuckeroth at CHOP. Patient led research directly inspired by Batten families. www.science.org/doi/10.1126/...

Happy to migrate over to Blue Sky from the 'other place' please feel free to pass on my info to anyone from the Lysosomal Diseases & Batten Disease research communities