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Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach
Kais Ghedira1, Soumaya Kouidhi2, Yosr Hamdi3
1Laboratory of Bioinformatics, BioMathematics and Biostatistics (LR16IPT09), Pasteur Institute of Tunisia, University of Tunis El Manar, 1002 Tunis, Tunisia.
Biomed Research International
|December 30, 2020
Summary
This study computationally links orphan diseases (ODs) and complex diseases (CDs) by analyzing shared genes and pathways. Findings reveal common pathways in cancer and apoptosis, aiding OD diagnosis and treatment.
Area of Science:
- Genomics
- Computational Biology
- Disease Pathophysiology
Background:
- Orphan diseases (ODs) lack understanding in their physiopathology, hindering diagnosis and treatment.
- Complex diseases (CDs) are well-studied, offering insights into disease mechanisms.
- Limited research exists on shared pathways between ODs and CDs.
Purpose of the Study:
- To investigate relationships between ODs and CDs using a computational approach.
- To identify shared molecular mechanisms and pathways between ODs and CDs.
- To improve diagnosis, prognosis, and treatment strategies for ODs.
Main Methods:
- Disease-gene association analysis using public databases.
- Identification of common genes linking ODs and CDs.
- Enrichment analysis to find shared pathways between ODs and CDs.
Main Results:
- Identified significant shared pathways between ODs and CDs.
- Common pathways include those in cancer, p53 signaling, mismatch repair, mTOR signaling, B cell receptor signaling, and apoptosis.
- Established a resource for drug-disease-pathway network analysis.
Conclusions:
- Shared pathways between ODs and CDs offer new therapeutic targets.
- Computational analysis can reveal crucial links between different disease categories.
- Findings facilitate optimized patient diagnosis and treatment strategies for orphan diseases.
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