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.

Project Update: July 2026

Presentation the World Congress for Rare Skin Diseases, Versailles

Dr Wei Wang presented the findings of this project on the 3rd day of congress in Versailles. Please see a short video of his presentation below.

Dr Wang talked the audience through the research stages, which included multiomics analysis such as proteomics and transcriptomics, in addition to testing for markers of keratinocyte stress, hyper-proliferation, cell differentiation, proteostasis, and ECM components. These extensive measurements were made for 10 patients with EI (Class: mild, moderate, and severe), and were compared with 4 healthy control subjects.

Dr Wang explained that the findings were most marked for the patients with severe EI, where the skin cells (keratinocytes) were observed to be under considerable stress. Skin cells in severe EI patients were also not maturing and forming the protective skin barrier as they should. In addition, Dr Wang explained that the skin cells in patients with severe EI appeared to increase the systems used to manage damaged or mis-folded proteins, in addition to altering how they produce and use energy.

When this data was presented at the EI Global Symposium in March 2026 by Professor Cristina Has, she explained that focusing our attention on how to reduce keratinocyte stress should become a new therapeutic target because keratinocyte stress drives most of the symptoms of EI.