08/31/2026
A NEW WINDOW INTO THE BRAIN IN BATTEN DISEASE
Very excited to see this new work from our teams at University of Rochester Medicine's Del Monte Institute for Neuroscience and our Fred & Marion Schindler Cognitive Neurophysiology Laboratory (Johnny Foxe), just published in Neurobiology of Disease.
The technical advance here is particularly exciting. We used functional ultrasound imaging (fUS) to map visually evoked activity across the brain in a mouse model of CLN3 disease (juvenile Batten disease). fUS combines remarkably high spatial and temporal resolution with the ability to image deep subcortical structures and cortex, allowing us to interrogate distributed neural circuits in a way that is difficult to achieve with conventional optical approaches.
And what we found was striking: At just 3 months of age—before severe retinal degeneration or overt neurodegeneration—we could already see a profound reorganization of central visual circuitry. The classical geniculostriate visual pathway showed reduced or preserved responses, while the parallel extrageniculate pathway showed enhanced activity across midbrain, thalamic and cortical regions. When we paired fUS with quantitative histopathology, these functional differences mapped onto striking pathway-specific differences in disease burden.
For a rare, relentlessly progressive childhood disorder like Batten disease, this matters. We urgently need biomarkers that can detect CNS dysfunction before irreversible neurodegeneration, track disease progression, identify therapeutic windows, and tell us whether an experimental treatment is actually preserving neural circuit function. Our results suggest that fUS could become an exceptionally powerful tool for doing exactly that—not only in CLN3 disease, but potentially across other lysosomal storage and rare neurodegenerative disorders.
A terrific interdisciplinary collaboration bringing together neuroscience, neuroengineering, functional imaging and rare-disease biology at Rochester. Congratulations especially to Fanchao Yin and Dr. Yanya Ding, our co-first authors, and to Professors Marvin Doyley and Kuan Hong Wang, who co-led the work.
This is precisely where new technology can make a difference in rare disease: seeing dysfunction earlier, measuring it better, and ultimately giving us a better way to know whether a therapy is working.
