Rare Disease, Real Progress: Unraveling Bachmann-Bupp Syndrome
Educational Programs
2026
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.
Keywords: Rare Disease, Genetics, Hair Loss, Polyamine Disorders, ODC1 Mutation
Caleb Bupp, MD, FACMG
Division Chief of Medical Genetics and Genomics at Corewell Health Helen DeVos Children’s Hospital and Clinical Director for the International Center for Polyamine Disorders
Andre Bachmann, PhD, MS
Professor and Associate Chair for Research in the Department of Pediatrics and Human Development at Michigan State University, and Scientific Director for the International Center for Polyamine Disorders
Liz VanSickle, PhD, MS
Scientist in Medical Genetics and Genomics at Corewell Health Helen DeVos Children’s Hospital and Scientist for the International Center for Polyamine Disorders
