Verified information about diagnostics and treatment, experienced doctors, and research updates - in one place, in Polish and English.
Photo from polymerase chain reaction training at the University of Gdańsk.
In typical cases the diagnosis is made from the clinical exam and imaging (X-ray, CT). And if a biopsy has already been done, histopathology alone is not enough. The GNAS mutation test on the biopsy material is what settles it.
Sources: FD/MAS Consortium 2019 · PMC9832888
When biopsy, and when the GNAS test or observation →Leading centers (Leiden, Sapienza, UCSF) recommend observation until skeletal maturity if there's no pain or functional impairment. Consult an expert.
Sources: PubMed 38010041 · PMC6968989
We're building a database of doctors in Poland and Europe who have treated FD/MAS patients. Plus current clinical guidelines - to download and bring to your doctor.
Doctors and guidelines →Iterative AI-researcher collaboration platform for rare disease research. Open-source. CLI MVP: June 2026.
AI monitors new publications, clinicians approve guideline changes - continuously updated, version-controlled clinical knowledge. In advanced development, opening access soon.
The foundation has been operating since December 2025. Key milestones from the first months - in short, with dates.
Leiden UMC - Director of the International FD/MAS Consortium, ERN BOND reference center.
Sapienza University, Rome - world-class expert in FD histopathology.
UCSF Bone Biology, USA - research program on targeted therapies for FD, FD/MAS Alliance Scientific Advisory Board.
Open-access consensus by 51 experts from 13 countries (Javaid, Boyce, Appelman-Dijkstra, …, Collins). Orphanet Journal of Rare Diseases, 14(139). Download it and bring it to your doctor.
Patient-facing page with flowcharts: FD/MAS Alliance.