Abstract
Orphan diseases is a significant socio-economic burden for both global and Russian health care systems. The global burden of disease metrics introduced by WHO, such as DALY, QALY, HALE, can be a useful tool for building economic models and prognoses, as well as medicine funding distribution. However, it is very difficult to standardize a heterogeneous group of rare diseases and it is difficult to talk about the cost-effective treatment options search, in cases where patients with an orphan disease may have only one pathogenetic therapy option. Much work needs to be done to find optimal treatment options and establish the standards of care necessary to maintain physical health, work capacity and quality of life.
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