Title:Global View on Rare Diseases: A Mini Review
Volume: 24
Issue: 29
Author(s): Blanka Klimova, Michael Storek, Martin Valis and Kamil Kuca *
Affiliation:
- Biomedical Research Centrum, University Hospital Hradec Kralove, Rokitanskeho 62, 50003, Hradec Kralove,Czech Republic
Keywords:
Rare diseases, classification, description, treatment, management, orphan diseases.
Abstract: 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.
