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Navigating Rare Disease: Connecting the Clues

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.

Recorded on:

October 21, 2026

60 minutes

English

AMUSS3M1

This event is organized and funded by Chiesi Global Rare Diseases. This information is intended for healthcare professionals only. There are no continuing medical education (CME) credits for this event. GRDMA-GL-GEN-00070; Date of preparation: 09/2026

Summary

Topics 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 features case studies, a panel discussion, and an audience Q&A.

Learning Objectives

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.

Expert Panel

Dr Christina Lampe

University Hospital of Giessen (DE)

University Hospital of Giessen (DE)

Dr. Neena Champaigne

Medical University of South Carolina Children's Health, Charleston, SC (USA)

Medical University of South Carolina Children's Health, Charleston, SC (USA)

Ms. Hanka Dekker

VKS, Dutch Patient Association for Inherited Metabolic Diseases, Zwolle (The Netherlands)

VKS, Dutch Patient Association for Inherited Metabolic Diseases, Zwolle (The Netherlands)

Questions & Answers

Key questions