Title:Skin Microbial Composition and Genetic Mutation Analysis in Precision
Medicine for Epidermolysis Bullosa
Volume: 25
Issue: 6
Author(s): Inna Syafarina, Maulida Mazaya, Ariani Indrawati, Sharfina Zahra Akbar, Caecilia Sukowati*Rifki Sadikin
Affiliation:
- Eijkman
Research Center for Molecular Biology, National Research and Innovation Agency (BRIN), Jakarta Pusat 10340, Indonesia
- Liver Cancer Unit, Italian Liver Foundation NPO, Fondazione Italiana Fegato ONLUS, Trieste, Italy
Keywords:
Epidermolysis bullosa, skin disorder, genetics, metagenomics, precision medicine, bioinformatics, microbiome.
Abstract: 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.
