A Rare Syndrome Leading to Incredible Advancements in Medicine:What’sVHL?

Link for CME Credit:

https://uthscsa.edu/medicine/education/cme/pediatrics-now-podcast

In this episode of Pediatrics Now, host Holly Wayment discusses Von Hippel-Lindau (VHL) Syndrome with leading experts Dr. Gail Tomlinson and Dr. Patricia Dahia from the University of Texas Health Science Center 's Department of Pediatrics and University Health.  This genetic disorder is characterized by the development of various tumors and cysts in different parts of the body, linked to mutations in the VHL gene.

The conversation delves into the history and genetic mechanisms of VHL Syndrome, highlighting its rarity and complex nature. Dr. Tomlinson and Dr. Dahia provide insights into the symptoms, diagnosis, and the groundbreaking development of a new FDA-approved drug that offers hope for managing the disease's manifestations.

Pediatric Practitioner Listeners will gain an understanding of how genetic research has transformed treatment options, moving towards precision medicine, and offering newfound hope for individuals with this challenging condition, and other conditions. Join us to explore the impact of precise genetic interventions and the ongoing research shaping the future of VHL Syndrome treatment.

Additional sources for this episode include The New York Times and Wikipedia.