Rare Disease, Real Progress: Unraveling Bachmann-Bupp Syndrome

In this episode of PeDRA Pearls, we explore the discovery of Bachmann-Bupp syndrome and the remarkable collaboration that transformed a single patient observation into a growing body of research and a promising treatment pathway. Host Jenn Dawson speaks with Caleb Bupp, MD, Andre Bachmann, PhD, and Liz VanSickle, PhD, about the genetics, skin and hair findings, and translational science behind this ultra-rare disorder, as well as the critical role pediatric dermatologists can play in recognizing patients, advancing research, and building connections for families navigating rare disease.