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European Journal of Translational Myology published an article with a review of orphan diseases

The paper analyzes global disease burden metrics introduced by the WHO, such as DALY, QALY, HALE, which can be a useful tool for building economic models and forecasts, as well as allocation of funding in medicine. Orphan diseases represent a significant socioeconomic burden for both global and Russian healthcare. Nevertheless, it is difficult to standardize a heterogeneous group of rare diseases and difficult to talk about finding ways for cost-effective treatment when patients with a number of orphan diseases have only one pathogenetic therapy option. A great deal of work needs to be done, to find optimal treatment and to form the standards of medical care necessary to preserve physical health, ability to work and quality of life.

Makarova E.V., Krysanov I.S, Valilyeva T.P., Zinchenko R.A., Vasiliev M.D. Current problems of orphan diseases global burden assessment. Eur J Transl Myol. 2021; 31 (2): 9610. doi: 10.4081/ejtm.2021.9610