Potential Treatments Leads (Hypothesis Generation Stage)

Related Diseases

Related Disease Nodes in Common with EDS Graph Existing Treatments or leads
Osteogenesis imperfecta COL27A1, COL1A1, connective tissue disorders ‣ Pamidronate
SCC squamous cell carcinoma COL3A1 and COL1A1 ‣ Lead? miR-133a-3p UnrelatedToEDS? cetuximab, pembrolizumab, cemiplimab, and bleomycin1.

Treatment Drug Candidates

Drug Usually For Mechanisms that could affect EDS?
Pamidronate Osteogenesis imperfecta

Related Diseases Scratch Notes

SCC squamous cell carcinoma - could drugs for SCC treat EDS?

Drugs & pathways

miR-133a-3p was found to suppress cell proliferation, migration, and invasion by targeting COL1A1 in esophageal squamous cancer tissue and cells3.

Other SCC drugs, maybe unrelated :  cetuximab, pembrolizumab, cemiplimab, and bleomycin1.

John’s Case

I have a TNXB defect TNXB Haploinsufficiency 90% truncation. Compound heterozygous Would that work?

Interesting Discoveries