RARE DISEASES – MODERN CHALLENGES

RARE DISEASES – MODERN CHALLENGES

Авторы

DOI:

https://doi.org/10.52340/jecm.2023.02.07

Ключевые слова:

Rare diseases, Modern challenges

Аннотация

The incidence of rare diseases in the population does not exceed 0.05% and their management is associated with difficulties. Doctors are less familiar with rare diseases, due to which the diagnosis is delayed, therefore the treatment is not effective. Also, the awareness of the title is low. Medicines for the treatment of rare diseases are often not registered in many countries of the world, including Georgia. Medicines are mostly of non-commercial use, which hinders the importation process. In terms of optimizing the management of rare diseases, we consider it significant to create an annual register of people with rare diseases registered in the country, to improve access to universal healthcare services for people with rare diseases; increasing the availability of laboratory studies, creating treatment and diagnostic guidelines for individual diseases, creating a unified electronic database of casuistic cases and creating management algorithms based on expert programs according to disease clusters, increasing the level of knowledge about these diseases globally

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Библиографические ссылки

https://rarediseases.org/rare-diseases/

https://www.matsne.gov.ge/ka/document/view/5571132?publication=0

Irena Melnikova Rare diseases and orphan drugs/Nature Reviews Drug Discovery volume 11, pages 267–268. 2012

Wright, et. al Paediatric genomics: diagnosing rare disease in children/Nature Reviews Genetics volume 19, pages 253–268. 2018

https://pharmacy.moh.gov.ge/Pages/Products.aspx

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Опубликован

2023-05-23

Как цитировать

KORINTELI, I., MIRVELASHVILI, E., MAKALATIA, A., KORINTELI, I., GIGASHVILI, T., MAKASHVILI, M., & MZIKYAN, L. (2023). RARE DISEASES – MODERN CHALLENGES. Experimental and Clinical Medicine Georgia, (2). https://doi.org/10.52340/jecm.2023.02.07

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