In Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL), the rate and degree of spread of symptoms throughout the body are linked to survival outcome. However, the cause for the pathology in HBSL is unknown. Using mini 3D brain oligodendrocytes generated from HBSL patient skin cells, we will study how interactions between oligodendrocytes and their support cells (neurons, astrocytes, and microglia) might lead to the development of disease over time. We will apply the cutting-edge technology of spatial transcriptomics to generate “cell-to-cell network maps” to inform whether we can manipulate cell networks to prevent demyelination. Finally, this research project aims to test nutraceutical supplementation as a therapeutic potential to ameliorate and or reverse established HBSL pathology.

Project financed by ELA up to: 65 846 €