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.
The clinical diagnosis of skeletal disorders usually requires the identification of different patterns in skeletal radiographs. However, the large number of these disorders and their rarity mean that even experienced clinicians may have only encountered a small fraction of them. Referring to X-ray catalogues is a conventional approach to tackle this issue, but it can be both time-consuming and subjective, and may potentially result in incorrect or delayed diagnoses.
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).