An exploration of potential therapeutic approaches for EI: A comprehensive analysis integrating Proteomic and RNA-Seq data

Influence of inflammation parameters and signalling cascades for potential therapeutic approaches in epidermolytic ichthyosis: A Comprehensive Analysis Integrating Proteomic and RNA-Sequencing Data

Summary of the Project

Our research aims to uncover the molecular mechanisms behind Epidermolytic Ichthyosis (EI). We'll analyse gene expression patterns through RNA sequencing and identify dysregulated proteins using proteomics techniques like Deep Visual Proteomics (DVP) and Serum Proteomics. By correlating these findings with histological data, we hope to better understand EI's pathogenesis, potentially discovering diagnostic biomarkers and therapeutic targets. Ultimately, this work aims to improve our understanding and treatment of EI.

Genetic variants included in the Project

• Epidermolytic Ichthyosis Pathogenic Variants on KRT1 and KRT10

Main outcomes anticipated from the Project

Our research aims to identify key genes and proteins involved in EI and understand how they contribute to the condition. By uncovering the molecular mechanisms underlying EI, we anticipate discovering new insights that will lead to the development of better diagnostic tools and more effective treatments in the future. Furthermore, we hope that our findings will facilitate the repurposing of existing targeted medications, which are currently approved for other diseases, for use in EI patients. This could expedite the availability of effective therapies for EI by leveraging already existing drugs, thereby improving patient outcomes and quality of life more rapidly.