From Gene Discovery to Therapy: Integrating Genomics and Functional Modeling in Epidermal Nevi
Yale School of Medicine
Yale University
Overview:
Epidermal nevi are skin conditions that appear as patches of thickened or abnormal skin caused by genetic changes that occur early in development. Because these changes happen after conception, they affect only certain areas of the skin, leading to patterned lesions. While some genetic causes are known, many cases remain unexplained.
In prior work, the fellow identified a new disease-causing gene, GAK, and showed how it disrupts signals that control skin cell growth and development. This work also demonstrated that these changes can be reversed in laboratory models using a targeted treatment.
In this study, we will analyze samples from hundreds of patients to identify additional genetic causes and understand how they affect skin cells. By identifying shared biological pathways, this research aims to guide the development of more precise, targeted therapies for children with epidermal nevi.
Status:
This was funded through a 2026 PeDRA Research Fellowship Grant.