Advances in the genetics of Paget’s disease of bone: from pathophysiology, diagnosis to clinical implications

PDB research highlights the importance of genetic studies, and the need for further research especially in families not linked to <i>SQSTM1</i> pathogenic variants. Enhancing education for health care professionals is critical, given PDB's rarity and its exclusion from medical curricula, which leads to diagnostic delays and mismanagement. Further exploration of gene-environmental interactions and the role of bone cells in lesion formation remains a priority. Advances in precision medicine may soon allow genetic testing to predict the risk of PDB using polygenic risk scores, leading to targeted prevention strategies. Future treatments may involve <i>SQSTM1</i> gene inhibitors, such as siRNA, offering a personalized approach to early prevention and management of PDB.