Transcriptomic analysis of Multicellular spheroids from 10 Ehlers-Danlos SYndrome (EDS) patients.

Multicellular spheroid from 10 Ehlers-Danlos SYndrome (EDS) patients were used to perform transcritomic experiment. These were compared to 4 control healty samples with the aim to identify dysregulated genes and pathways and to use this information to propose potential drugs that could be repurposed for the treatment, based on computational approaches to drug repositioning.In summary, this comprehensive study expands our understanding of the molecular basis of Ehlers-Danlos syndrome, particularly relating to COL3A1 mutations. The integration of transcriptomic analysis, pathway studies, and drug repurposing strategies provides a robust framework for identifying potential therapeutic strategies for EDS. Overall design: Multicellular spheroids grown 48h were harvested and pooled in 1,5ml tubes. After two PBS washes the spheroids were incubated for 30' at room temperature with LBE buffer and then frozen over night at -80°C. Total RNA was extracted from Multicellular spheroids of 10 Ehlers-Danlos SYndrome (EDS) patients and 4 controls