- In May 2024, the Chinese Ministry of Health expanded its national rare disease registry to include multiple hereditary exostosis (MHE), aiming to improve early diagnosis, treatment access, and long-term monitoring of patients across major provinces. This initiative reflects China’s strategic investment in rare disease management and its commitment to utilizing centralized data systems for personalized patient care and improved clinical outcomes
- In March 2024, Japan’s National Center for Child Health and Development launched a collaborative research project focusing on gene editing therapies targeting EXT1 and EXT2 mutations in MHE. The initiative involves leading universities and biotech firms, marking a significant advancement in precision medicine and gene therapy innovation for rare skeletal disorders in the country
- In February 2024, the Indian Council of Medical Research (ICMR) approved funding for a nationwide pilot program focused on genetic screening of pediatric patients suspected of skeletal dysplasias, including MHE. The program is designed to enhance early-stage diagnosis, build diagnostic capacity in public hospitals, and support families through genetic counseling services
- In January 2024, South Korea’s Seoul National University Hospital began clinical trials on AI-assisted imaging algorithms to improve the accuracy of MHE diagnosis through MRI and CT scan interpretation. This development highlights South Korea’s push toward integrating artificial intelligence into orthopedic diagnostics, enhancing efficiency and reducing diagnostic delays
- In December 2023, the Australian Rare Disease Network (ARDN) announced a partnership with multiple children’s hospitals to standardize treatment protocols for MHE and other bone disorders. The collaboration includes training modules for healthcare providers and the development of a centralized digital patient registry to facilitate research, clinical decision-making, and policy formulation
