Submit Manuscript  

Article Details

Global View on Rare Diseases: A Mini Review

[ Vol. 24 , Issue. 29 ]


Blanka Klimova, Michael Storek, Martin Valis and Kamil Kuca *   Pages 3153 - 3158 ( 6 )


Background: Rare diseases are often serious, life-threatening and debilitating group of disorders. Nowadays, there are approximately 8,000 rare diseases and it is estimated that 350 million people are affected by these conditions worldwide. Unfortunately, rare diseases are quite complex and chronic, only a small number of these diseases can be relevantly diagnosed and treated, and lifelong treatment is often required.

Objective: The purpose of this mini review is to explore the issue of rare diseases, describe their classification, discuss the current treatment and management and set future research in this field. Methods: The methods applied in this review include literature review of the world's acknowledged databases such as PubMed, Springer and Web of Science, especially in the period of 2000 to 2015. Furthermore, a method of comparison and evaluation of the findings from the relevant sources is used.

Results: The findings confirm that rare diseases are still quite difficult to diagnose due to their comorbidities. Once they are diagnosed, they demand costly and long-term treatment, which raises concerns of national governments.

Conclusion: Therefore more research should be done in the space of rare diseases in order to broaden knowledge about them, their diagnosis and treatment, which will then lead to better training of medical staff, and ultimately will benefit the patients.


Rare diseases, classification, description, treatment, management, orphan diseases.


Department of Neurology, University Hospital Hradec Kralove, Hradec Kralove, SSSL Consultants, Cambridge, MA, Department of Neurology, University Hospital Hradec Kralove, Hradec Kralove, Biomedical Research Centrum, University Hospital Hradec Kralove, Rokitanskeho 62, 50003, Hradec Kralove

Read Full-Text article