Aim: To improve understanding, diagnosis, and management of rare skeletal diseases and atypical presentations of common (musculo)skeletal disorders.

Key activities

• unravel the genetic and non-genetic background of rare and complex disorders
• develop novel biomarkers and diagnostic tools
• test novel treatments through clinical trials

Platform

• Bone expertise centrum
• Rare disease registries (European network)
• SINTER study

Key Scientific question

• What can rare and atypical skeletal disorders teach about skeletal biology and personalized medicine?