Navigating Rare Disease: Connecting the Clues

Registration is free and a certificate of attendance will be provided by the Excellence in Pediatrics Institute. By registering, you will also have access to the webinar on demand once the session has concluded.

Join Dr. Christina Lampe, Dr. Neena Champaigne, and Hanka Dekker as they examine the key clinical clues that should prompt a “think rare” approach and discuss their experiences of navigating the journey to diagnosis. Topics will include an introduction to rare genetic disorders, their clinical presentation in infancy and adulthood, and the importance of early diagnosis for patient management and multidisciplinary team involvement. The webinar will feature case studies, a panel discussion, and an audience Q&A.

Live on: Wednesday, October 21, 2026 at 18:00–19:00 Central European Summer Time (CEST) | 12:00–13:00 EDT, 09:00–10:00 PDT

Learnings

At the end of the webinar, participants will be able to:

Describe rare genetic diseases, including their prevalence, key causes, and underlying mechanisms.
Recognize the clinical presentations of rare genetic diseases across infancy, childhood, and adulthood, and identify when to suspect a rare disease.
Explain the importance of early diagnosis in rare genetic diseases and its implications for patient management and multidisciplinary care.