# PeDRA at SID - A Patient Advocacy Perspective Page: https://stenobird.com/podcast/pedra-pearls-1565679/pedra-at-sid-a-patient-advocacy-perspective Text version: https://stenobird.com/podcast/pedra-pearls-1565679/pedra-at-sid-a-patient-advocacy-perspective.md Podcast: [PeDRA Pearls](https://stenobird.com/podcast/pedra-pearls-1565679) Published: 2026-05-20T13:00:00+00:00 Episode link: https://pedra-podcasts.captivate.fm Audio file: https://episodes.captivate.fm/episode/0ecba3c6-c7e3-49eb-8e79-c9a31ff0ad83.mp3 Processing state: not_requested JSON: https://stenobird.com/v1/public/podcasts/pedra-pearls-1565679/episodes/pedra-at-sid-a-patient-advocacy-perspective Duration seconds: 667 ## Resource 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. ## Actions - request_transcript: `POST https://stenobird.com/v1/public/podcasts/pedra-pearls-1565679/episodes/pedra-at-sid-a-patient-advocacy-perspective/transcription-requests` — Idempotently request low-priority transcript generation for this episode. - read_markdown: `GET https://stenobird.com/podcast/pedra-pearls-1565679/pedra-at-sid-a-patient-advocacy-perspective.md` — Read the agent-friendly Markdown representation of this episode resource. A page view does not enqueue transcription. Agents should invoke `request_transcript` explicitly when they need this episode processed. ## Transcript Full transcripts are not published on public pages unless there is a clear rights basis.