AccScience Publishing / GPD / Online First / DOI: 10.36922/gpd.8543
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REVIEW ARTICLE

Cracking the genetic code of epidermolysis bullosa with bioinformatics

Dorra Guermazi1 ,  Elias Guermazi2 ,  Elie Saliba1,3*
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1 Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, United States of America
2 Department of Biomedical Engineering, Boston University, Boston, Massachusetts, United States of America
3 Department of Dermatology, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Keserwan-Jbeil
GPD, 8543 https://doi.org/10.36922/gpd.8543
Received: 15 January 2025 | Revised: 15 April 2025 | Accepted: 28 April 2025 | Published online: 20 May 2025
© 2025 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Epidermolysis bullosa (EB) is a group of rare, inherited skin disorders characterized by skin fragility and blistering due to mutations in genes encoding structural proteins essential for skin integrity. Despite significant advances in understanding the clinical manifestations of EB, the identification of disease-causing mutations and the development of targeted therapies remain challenging due to the complexity of genetic variations. Bioinformatic approaches have emerged as powerful tools to better understand the genetic source and mechanism of EB. This paper explores the role of bioinformatics in analyzing genetic data from EB patients, focusing on the use of whole-genome sequencing and whole-exome sequencing, variant calling and annotation, transcriptomic analysis through RNA sequencing, and protein-structure modeling to identify novel mutations and their impact on skin function. In addition, the applications of bioinformatics, including personalized treatment strategies, early diagnosis, and development of gene editing therapies, are discussed. While challenges such as data complexity and limited databases remain, bioinformatics hold significant promise in advancing our understanding of EB and improving patient outcomes through more precise and tailored therapeutic interventions. Future integration of artificial intelligence, expanded genetic databases, and clinical decision support tools will further enhance the potential of bioinformatics in the management of rare skin disorders like EB.

Keywords
Epidermolysis bullosa
Bioinformatics
Genetic mutations
Personalized medicine
Protein-structure modeling
Funding
None.
Conflict of interest
The authors declare that they have no competing interests.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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