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DOI 10.2174/0113894501290512240327091531

Медицинская библиотека · Current drug targets · 2024

Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa.

Syafarina Inna, Mazaya Maulida, Indrawati Ariani, Akbar Sharfina Zahra, Sukowati Caecilia, Sadikin Rifki

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Аннотация

Epidermolysis bullosa (EB) is an inherited skin disease representing a spectrum of rare genetic disorders. These conditions share the common trait that causes fragile skin, resulting in the development of blisters and erosions. The inheritance follows an autosomal pattern, and the array of clinical presentations leads to significant physical suffering, considerable morbidity, and mortality. Despite EB having no cure, effectively managing EB remains an exceptional challenge due to its rarity and complexity, occasionally casting a profound impact on the lives of affected individuals. Considering that EB management requires a multidisciplinary approach, this sometimes worsens the condition of patients with EB due to inappropriate handling. Thus, more appropriate and precise treatment management of EB is essentially needed. Advanced technology in medicine and health comes into the bioinformatics era. Including treatment for skin diseases, omics-based approaches aim to evaluate and handle better disease management and treatment. In this work, we review several approaches regarding the implementation of omics-based technology, including genetics, pathogenic mutation, skin microbiomics, and metagenomics analysis for EB. In addition, we highlight recent updates on the potential of metagenomics analysis in precision medicine for EB.

Для цитирования: Syafarina Inna, Mazaya Maulida, Indrawati Ariani, Akbar Sharfina Zahra, Sukowati Caecilia, Sadikin Rifki. Skin Microbial Composition and Genetic Mutation Analysis in Precision Medicine for Epidermolysis Bullosa.. Current drug targets. 2024. DOI: 10.2174/0113894501290512240327091531.

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