PeDRA at SID - A Patient Advocacy Perspective

About this episode

Meredith Weiss discusses a study on novel PTCH1 variants in Gorlin Syndrome presented at the SID meeting.

Meredith Weiss joins the podcast to discuss a study that was presented in the inaugural Gorlin Syndrome Alliance Round Table session at the Society for Investigative Dermatology (SID) meeting. Meredith is the Executive Director for the Gorlin Syndrome Alliance. Novel PTCH1 Variants in Gorlin Syndrome Identified through Genomic Analysis of 118 Patients. The authors of this study are: Ryan Kern*1, Amy Xiong1, Qianqian Wang2, Philip Beachy2, Jean Tang1 1Department of Dermatology, Stanford University School of Medicine, Stanford, California, United States; 2Department of Developmental Biology, Stanford University School of Medicine, Stanford, California, United States Please click here for more information about the Gorlin Syndrome Alliance.

People in this episode

Guest: Meredith Weiss

Topics covered

• Gorlin Syndrome
• patient advocacy
• genomic analysis
• dermatology
• research study

Keywords

• Gorlin Syndrome
• PTCH1 variants
• genomic analysis
• pediatric dermatology
• patient advocacy

Mentioned in this episode

Organizations: Gorlin Syndrome Alliance, Department of Dermatology, Stanford University School of Medicine, Department of Developmental Biology, Stanford University School of Medicine

Places: Stanford, California, United States

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