Rare Diseases in Malaysia: Mapping the Landscape and Building a Framework for Comprehensive Care Support

Rare diseases (RDs) represent an emerging global health issue affecting an estimated 5.9% of the world’s population, with over 8,000 conditions identified and counting. In Malaysia, RDs are defined as diseases affecting fewer than one in 4,000 people. These patients face significant barriers, which include limited awareness among healthcare providers, delayed diagnoses, insufficient healthcare coverage and restricted access to orphan drugs. This article proposes a framework to tackle the issues mentioned by enhancing public and professional awareness, establishing national RD registries, encouraging local and international collaborations, and creating dedicated funding schemes. These points aim to improve early diagnosis, equitable access to treatment, and overall patient care. By addressing these management and treatment gaps, we can work towards a more comprehensive and effective RD management framework.