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.
Keywords: Rare diseases, classification, description, treatment, management, orphan diseases.
Current Medicinal Chemistry
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.
Export Options
About this article
Cite this article as:
Klimova Blanka , Storek Michael , Valis Martin and Kuca Kamil *, Global View on Rare Diseases: A Mini Review, Current Medicinal Chemistry 2017; 24(29) . https://dx.doi.org/10.2174/0929867324666170511111803
DOI https://dx.doi.org/10.2174/0929867324666170511111803 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |

- Author Guidelines
- Editorial Policies
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Allegations from Whistleblowers
- Publishing Ethics and Rectitude
- Increase Visibility Of Your Article
- Archiving Policies
- Reviewer Guidelines
- Guest Editor Guidelines
- Board Recruitment Workflow
- Short Guide for New Editors
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Announcements
- Forthcoming Thematic Issues
Related Articles
-
Matrix Metalloproteinase Inhibitors as Prospective Agents for the Prevention and Treatment of Cardiovascular and Neoplastic Diseases
Current Topics in Medicinal Chemistry PDE5 Inhibitors in Non-Urological Conditions
Current Pharmaceutical Design Drug-Induced QTc Interval Prolongation: A Multicenter Study to Detect Drugs and Clinical Factors Involved in Every Day Practice
Current Drug Safety Complex Inheritance for Susceptibility to Sudden Cardiac Death
Current Pharmaceutical Design Molecular Signals Elicited by GPCR Agonists in Hypertension, Cardiovascular Remodeling: Are MMPs and ADAMs Elusive Therapeutic Targets?
Current Hypertension Reviews Diabetic Cardiomyopathy: Electromechanical Cellular Alterations
Current Vascular Pharmacology Forms of Iron Binding in the Cells and the Chemical Features of Chelation Therapy
Mini-Reviews in Medicinal Chemistry Red Cell Glycolytic Enzyme Disorders Caused by Mutations: An Update
Cardiovascular & Hematological Disorders-Drug Targets Understanding Abnormal c-JNK/p38MAPK Signaling in Amyotrophic Lateral Sclerosis: Potential Drug Targets and Influences on Neurological Disorders
CNS & Neurological Disorders - Drug Targets Role of Oxidative-Nitrosative Stress and Downstream Pathways in Various Forms of Cardiomyopathy and Heart Failure
Current Vascular Pharmacology Mitochondrial Tolerance to Drugs and Toxic Agents in Ageing and Disease
Current Drug Targets Genetic Privacy in Sports: Clearing the Hurdles
Recent Patents on DNA & Gene Sequences Therapeutic Targeting of Endothelial Dysfunction in Chronic Diabetic Complications
Recent Patents on Cardiovascular Drug Discovery Autophagy: For Better or for Worse, in Good Times or in Bad Times …
Current Molecular Medicine Ectodomain Shedding of ACE and ACE2 as Regulators of Their Protein Functions
Current Enzyme Inhibition The Use of Novel Oral Anticoagulants in Atrial Fibrillation
Cardiovascular & Hematological Disorders-Drug Targets MicroRNAs: A Critical Regulator and a Promising Therapeutic and Diagnostic Molecule for Diabetic Cardiomyopathy
Current Gene Therapy Tetralogy of Fallot and Hypoplastic Left Heart Syndrome – Complex Clinical Phenotypes Meet Complex Genetic Networks
Current Genomics Mechanisms of Enhanced Vasoconstriction in the Mouse Model of Atherosclerosis: the Beneficial Effects of Sildenafil
Current Pharmaceutical Biotechnology Cardiovascular Magnetic Resonance Imaging: State of the Art
Current Cardiology Reviews