Rare Disease Diagnosis

Osteogenesis imperfecta (OI) is a rare genetic disease that affects type I collagen.

90% of the cases are caused by COL1A1 or COL1A2 mutations.

The main symptom is bone fragility and although skin is also a collagen I rich tissue it is only slighlty affected by the disease.

This project has 2 main goals:

  • To study the biomechanical response of fibroblasts and osteoblasts with OI mutations.
  • To study biomechanical correlations between skin and bones in OI: can the skin be an indicator of bone degradation?

We will achieve this in 3 steps:

  1. Development of mineralized and connective 3D bioprinted functional tissues.
  2. Induction of Osteogenesis imperfecta within in-vitro functional tissues. Assessment of the mechanisms of mechano-transduction in-situ.
  3. Mediation of the structural and functional properties of collagen fibrils in response to environmental and mechanical confinement.

Partners : Ecole Centrale de Lyon, HCL, LabSkin Creations