Skeletal dysplasias are rare diseases that collectively affect a large number of people. The latest Nosology and classification of genetic skeletal disorders includes over 700 distinct diseases associated with more than 500 genes.
Bone2Gene AI aims to identify the unique imaging patterns linked to various bone disorders and support clinicians in the diagnostic process. It would shorten the diagnostic odyssey and reduce the difficulties that patients with rare bone diseases and their families endure. The Bone2Gene project is funded by the Go-Bio initial program from the German Federal Ministry of Education and Research (BMBF).
In 2024, we conducted a global survey to evaluate healthcare providers' interest in using an AI-based assistant to support the differential diagnosis of rare bone diseases.
See the aggregated results here.
Click to check the list of disorders from which we are currently collecting data.