Excellence in Pediatrics is a non-profit association dedicated to advancing pediatric healthcare.
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email: secretariat@ineip.org
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Educational series sponsored by
This Issue
Two new live sessions from the Think Rare Program follow the diagnostic journey for rare genetic diseases from the first clue to a confirmed diagnosis — recognizing the signs, navigating referrals and testing, and understanding the barriers that can turn months into years.
Context
Rare genetic diseases often present with non-specific symptoms that vary widely between individuals, contributing to delays in diagnosis and access to appropriate care. Early signs such as recurrent infections, hearing loss, or subtle developmental delays are common in pediatric practice and are often treated in isolation rather than recognized as part of a broader pattern.
The EiP Think Rare Program brings together leading experts to help clinicians think rare, recognize early signs, and act faster. Two free live webinars take place in October and November 2026, with on-demand access and an EiP Certificate of Attendance for each session.
Upcoming Webinar 1 • Wednesday, 21 October
Wednesday, 21 October 2026
18:00–19:00 CEST | 12:00–13:00 EDT · 09:00–10:00 PDT
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. 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.
Dr. Christina Lampe
Center for Rare Diseases, University Hospital of Giessen (Germany)
Dr. Neena Champaigne
Medical University of South Carolina Children’s Health (USA)
Hanka Dekker
VKS, Dutch Patient Association for Inherited Metabolic Diseases (Netherlands)
Key Learning Points — Webinar 1
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.
Upcoming Webinar 2 • Wednesday, 11 November
Wednesday, 11 November 2026
18:00–19:00 CET | 12:00–13:00 EST · 09:00–10:00 PST
Navigating Rare Disease: The Path to Diagnosis
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, CGC, 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.
Dr. Christina Lampe
Center for Rare Diseases, University Hospital of Giessen (Germany)
Dr. Neena Champaigne
Medical University of South Carolina Children’s Health (USA)
Dawn Laney, CGC
Emory Lysosomal Storage Disease Center, Emory University, Atlanta (USA)
Key Learning Points — Webinar 2
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.
Disclaimer
About the Program
The EiP Think Rare Program empowers pediatricians and general practitioners to identify rare and underdiagnosed conditions early. The program currently covers MPS, MLD, AM, and CLN2 (Batten disease) — a practical, centralized resource for recognizing rare diseases in clinical practice.
Explore the Learning Zones
Each Learning Zone focuses on a specific rare disease — condition-specific knowledge, early signs to watch for, and up-to-date clinical resources.
Mucopolysaccharidosis (MPS)
Practical resources to help detect early signs, reduce misdiagnosis, and ensure timely referral.
Visit Zone →Metachromatic Leukodystrophy (MLD)
Recognize early signs often mistaken for common conditions and act sooner.
Visit Zone →Alpha-Mannosidosis (AM)
Recognize the early signs and transform outcomes with earlier, more accurate referral.
Visit Zone →Neuronal Ceroid Lipofuscinosis (CLN2)
Resources on CLN2 (Batten disease), from early recognition to management.
Visit Zone →Rue des Vignerons 1B, 1110 Morges (VD), Switzerland
secretariat@ineip.org
