Dr. Behnam Javanmardi and colleagues at the University Hospitals Bonn and Magdeburg are developing Bone2Gene, an artificial intelligence project that aims to support the diagnosis and monitoring of rare bone diseases.

There are more than 700 known rare bone diseases, involving more than 500 different genes. For many families, receiving a precise diagnosis can take a long time and may involve several clinical visits. A correct diagnosis is important, because treatment and follow-up often depend on identifying the specific type of rare bone disease.

Bone2Gene aims to train artificial intelligence to recognize patterns in medical images. In the first phase, the project focuses on hand and wrist X-rays, as these are commonly taken in children with growth disorders and rare bone conditions. The project builds on previous work with Deeplasia (an AI tool for bone age assessment), and expands this approach toward recognizing and distinguishing different rare bone diseases.

The Bone2Gene team is collecting de-identified hand radiographs together with basic clinical information. The project has been approved by the ethics commission of the University Hospital Bonn and is funded by the German Federal Ministry of Research, Technology and Space. By contributing data or connecting the team with clinical centers, physicians and patient organizations can help improve future diagnostic tools for children and adults with rare bone diseases.

Who can get in touch?

• Clinicians caring for people with rare bone diseases
• Radiology, genetics, endocrinology or pediatric centers with relevant X-ray data
• Researchers and patient organizations interested in rare bone diseases
• Families or patient advocates who would like to learn more about the project
• Help us improve the diagnostic journey for people living with rare bone diseases. For more information, please visit this website.

Contact

Dr. rer. nat. Behnam Javanmardi
Principal Investigator & Lead AI Scientist
Email: bjav@uni-bonn.de

Prof. Dr. med. Klaus Mohnike
Endocrinologist
Email: Klaus.Mohnike@med.ovgu.de