Navigating Rare Disease: The Path to Diagnosis

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.

This educational webinar explores the diagnostic pathway for rare genetic diseases in routine clinical care. Join Dr. Christina Lampe, Dr. Neena Champaigne, and Dawn Laney as they discuss best-practice guidance to support timely diagnosis, key steps in the diagnostic pathway, and practical advice on referral and testing in clinical practice. The webinar will feature case studies, panel discussion, and audience Q&A.

Live on: Wednesday, November 11, 2026 at 18:00–19:00 Central European Time (CET) | 12:00–13:00 EST, 09:00–10:00 PST

Learnings

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

Identify best-practice approaches to support the timely diagnosis of rare genetic diseases and recognize potential barriers to diagnosis.
Describe the key steps in the diagnostic pathway, including the clinical utility of genetic testing, test selection and ordering, and subsequent care pathways.
Apply practical strategies to optimize the diagnostic pathway in routine clinical practice.