New 3D imaging tech revolutionizes lysosomal disease research 

A novel label‑free holographic tomography in flow cytometry (HTFC) enables live 3D imaging of lysosomes in suspended cells—ushering in new diagnostics and therapeutic monitoring possibilities for disorders like Niemann‑Pick type C1. 

Diego Medina, Telethon Institutes of Genetics and Medicine
Diego Medina, Telethon Institutes of Genetics and Medicine

Scientists from Italy’s Institute of Applied Sciences and Intelligent Systems (ISASI‑CNR) and the Telethon Institute of Genetics and Medicine (TIGEM) have developed an innovative, label‑free 3D imaging technology—holographic tomography in flow cytometry (HTFC).

This cutting‑edge method allows quantitative, high‑resolution visualization of lysosomal structures in live, suspended cells—without the need for chemical staining—marking a transformative step forward in the study of lysosomal storage diseases (LSDs). The study was published in ACS Nano and received support from Fondazione Telethon. 

Seeing lysosomes in action—no labels required

HTFC harnesses holographic 3D imaging to capture intricate lysosomal features—such as density and volume—in a non‑invasive manner. The technology renders the nucleus (purple) and aggregated lysosomes (green) within the cytoplasm (pink), providing a vivid, real‑time snapshot of intracellular organization in suspended live cells. 

“This innovative approach could revolutionize the study of lysosomal storage disorders".

Diego Medina

"For the first time, we can measure biophysical parameters of lysosomes—such as density and volume—and see how pathological accumulation of molecules alters their physical properties. These parameters can be used to study disease mechanisms, progression, and therapeutic response” commented Diego Medina, Principal Investigator at TIGEM.

A leap toward clinical translation

Lysosomal storage diseases encompass over 60 rare genetic disorders stemming from enzyme or protein defects within lysosomes, often leading to significant damage to neurological tissues.

Current diagnostic techniques typically rely on fixed or labeled samples, limiting real‑time functional insights. HTFC’s ability to analyze live cells in suspension bridges that gap, offering a powerful tool for studying disease progression and responses to treatments in a clinically relevant format.

This milestone underscores the Foundation’s role in catalyzing innovative, translational research that breaks traditional limits. By funding a technology that enables non‑invasive, live‑cell imaging of lysosomal dynamics, Fondazione Telethon fosters new diagnostic and therapeutic horizons for rare diseases like Niemann‑Pick—all in stride with its mission to bring cutting‑edge science to patient care.

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