GSA on PeDRA's SID Podcast

Understanding Genetic Variability in Gorlin Syndrome

Gorlin syndrome is a highly variable condition. Even members of the same family who share the same disease-causing genetic variant can experience very different symptoms and health outcomes.

Understanding why these differences occur is one of the most important questions in Gorlin syndrome research. Insights into the genetic factors that influence disease expression could help researchers develop more personalized treatments, improve prognostic tools, and ultimately enhance care for individuals living with the condition.

In a recent episode of the Pediatric Dermatology Research Alliance (PeDRA) podcast, Gorlin Syndrome Alliance Executive Director Meredith Weiss discusses new research examining genetic variation in Gorlin syndrome and why this work is important for patients, families, clinicians, and researchers.

The study, Novel PTCH1 Variants in Gorlin Syndrome Identified through Genomic Analysis of 118 Patients, analyzed genetic data from 118 individuals with Gorlin syndrome to identify previously unreported variants in the PTCH1 gene. The findings contribute to a growing understanding of the genetic landscape of the disease and may help explain some of the variability seen among affected individuals.

This research was presented during the inaugural Gorlin Syndrome Alliance Round Table session and was also featured at the Society for Investigative Dermatology (SID) Annual Meeting.

Study Authors and Affiliations

Ryan Kern¹, Amy Xiong¹, Qianqian Wang², Philip Beachy², and Jean Tang¹

¹ Department of Dermatology, Stanford University School of Medicine, Stanford, California, United States