Visceral Myopathy (VCMS), a myogenic form of chronic intestinal pseudo-obstruction (CIPO), is a rare severe genetic disease showing variable neonatal dysfunctions in bladder and gut motility. Lack of diagnosis, mis-diagnosis or inadequate treatment can be responsible of either life-threatening events or very severe and acute intestinal attacks. Pathogenic conditions ascribed to the CIPO family share similar symptoms (mostly a severe deficit of peristalsis), but a clear genetic footprint has not been identified yet. Nevertheless, at the level of cellular phenotype, a marked impact on the actin cytoskeleton is common among patients affected by myogenic CIPO. This finding might lead to the identification of a biomarker based on a non-specific physical indicator, such as the shape, volume or mechanical properties of cells.
The activity will deal with: • Cell mechanical properties, at the level of single cell assay and high throughput mechanotyping • Traction force microscopy • High throughput quantitative phase imaging for morphometric phenotyping
The aim is to collect a first set of label-free biomarkers to identify the one that best matches the disease severity. The activity is carried out in close collaboration with the children hospital Giannina Gaslini in Genova (Italy) where cells will be collected from patients, and the National Research Council of Italy, providing support for the bioinformatic analysis.