Xiaomin Bao PhD

Associate Professor Northwestern University

Award: $50,000

OBJECTIVE:  For adult patients with epidermolytic ichthyosis, the most debilitating symptoms are localized to areas undergoing frequent mechanical stress, such as jonits and skin folds. We will investigate the molecular mechanisms underlying these localized symptoms, which will serve as a basis for treatment development.

AIMS: The goal of this study is to determine how the skin cells from patients with epidermolytic ichthyosis (EI) respond to mechanical stress differently from healthy donors.  We have developed two aims to determine changes in 1) the epigenome that predispose EI to heightened responses to mechanical stress; 2) cellular signaling pathways that respond to cyclic mechanical stretches.

METHODS: We will leverage patient-derived primary human skin cells as the powerhouse to uncover the molecular mechanisms underlying EI's augmented cellular responses to mechanical stress. Site-and age-matched skin cells from healthy donors will be used as controls.

RELEVANCE TO THE MISSION OF FIRST: This study investigates the molecular mechanisms underlying the severe symptoms of EI that are specifically localized to joints and skin fold areas. The mechanistic insights generated from this study can inform the development of new targeted therapies. In particulat, several FDA-approved drugs targeting components of the mechano-transduction pathwway or epigenetic regulators are already available. Thus, the findings from this study will inform the possibilites of repurposing these drugs for EI treatment.

Beyond EI, findings from this study may provide a broader framework for understanding other subtypes of ichthyosis and related skin types with localized severity.

Researchers interested in funding Through FIRST'S Research Grant Program