| dc.description.abstract | There are 7000 identified rare diseases (RD) globally, and the definition of each RD varies from country to country. RD are often chronic, progressive, and frequently life-threatening. It is estimated that almost 400 million people are living with one of the 7000 identified RD globally, taking in account their families, the actual number of people that are affected directly or indirectly with RD is very high, hence declaring RD a public health problem. In Chile, it is estimated that 1 (one) million people are living with one of the RD. As little is known about these diseases in Chile, often RD remain underdiagnosed due to lack of epidemiological and real-world evidence data. To understand Chilean epidemiological situation and to better manage this neglected public health problem, it is crucial to have the national registry of RD first to understand epidemiological & socio demographic situation then to provide the integrated approach to include RD in the national health care plan, to further strengthen framework of RD and with overall objective to be able to improve the life of patients, caregivers & their families. Using a combination of literature surveys, the author evaluated Chile’s rare disease landscape and made some recommendations to the key learnings Chile can adopt to create and implement a national registry of RD. The literature review includes the latest revision of available literature in Colombia and France; countries that have managed to develop the successful national RD registry.
Keywords: Rare Diseases, National Registry Chile, Literature review, Recommendations | |
