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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Global View on Rare Diseases: A Mini Review.
Blanka Klimova1, Michael Storek2, Martin Valis1
1Department of Neurology, University Hospital Hradec Kralove, Hradec Kralove. Czech Republic.
Current Medicinal Chemistry
|May 13, 2017
Summary
Rare diseases affect 350 million people globally and are challenging to diagnose and treat. Further research is crucial for improved patient outcomes and medical staff training.
Area of Science:
- Medical Research
- Genetics
- Public Health
Background:
- Rare diseases are serious, debilitating, and affect 350 million worldwide.
- Approximately 8,000 rare diseases exist, often chronic and complex.
- Limited diagnostic and treatment options necessitate lifelong care.
Purpose of the Study:
- To explore the challenges of rare diseases.
- To review classification, treatment, and management strategies.
- To identify future research directions in rare diseases.
Main Methods:
- Literature review of major databases (PubMed, Springer, Web of Science) from 2000-2015.
- Comparative analysis and evaluation of findings from relevant sources.
Main Results:
- Diagnosis of rare diseases remains difficult due to comorbidities.
- Costly, long-term treatment for diagnosed rare diseases presents a significant burden.
- Current management strategies require substantial governmental attention.
Conclusions:
- Increased research is essential to advance knowledge of rare diseases.
- Improved diagnosis and treatment protocols are needed.
- Enhanced medical staff training will ultimately benefit patients with rare diseases.
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