International School on Rare Diseases

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International School on Rare Diseases

Directors:
Domenica Taruscio, President Study Center KOS (Italy), ICORD & UDNI Board Member, Former Director National Centre Rare Diseases, Istituto Superiore di Sanità (Rome, Italy)
Cynthia Tiff, President of ICORD, NIH (USA)

School Overview

Main goal: Build a systems-level understanding that connects public health foundations, rare-disease practice, and One Health approaches, using longitudinal case studies.

Learning Objectives:

  • Explain core public-health concepts and how they govern population-level decision-making.
  • Navigate rare-disease definitions, epidemiology, genetics, diagnostics, and care pathways.
  • Evaluate trial design and regulatory pathways for small populations and orphan drugs.
  • Integrate environmental, social, and governance dimensions using the One Health lens.
  • Apply ethical and legal frameworks to genomics, data sharing, and advanced therapeutics.
  • Synthesize cross-sector collaboration strategies for preparedness and response in rare diseases.

Delivery: Virtual, live.

Frequency: 2 sessions per week (Monday:14.00-16.00 CET; Wednesday:14.00-16.00 CET).
Monday 14.00 – 16.00 CET

Duration: November 2026 – January 2027 (with a winter break)

Total instructional hours: 32 hours, 8 weeks

Target audience: medical, clinical and other health care professionals working with rare diseases, policy makers, health agencies personnel, researchers and patients’ representatives.

Registration Fee: €50

Registration: fill the form

Certificate: Certificate of participation for those attending 100% of the classes

4 Modules

Module 1. Foundations of Public Health (Lead: R. Stefanov, M. Posada)
Module 2. Rare Diseases – Concepts & Systems (Lead: C. Tifft, M. T. Acosta)
Module 3. Undiagnosed Disease and Approach to Diagnosis. (Lead: W. Gahl, E. Palmer)
Module 4. Integrating Rare Diseases into One Health (Lead: D. Taruscio, A. Mantovani).

Module Topics

Module 1 — Foundations of Public Health
This module provides the conceptual and analytical foundations of public health as a discipline, governance framework and policy field. It is designed for medical and clinical professionals with the necessary systemic perspective to understand how health needs are defined, prioritized, regulated, and addressed at population level. The focus is on principles, structures, and policy mechanisms rather than on specific diseases. The module establishes the analytical language required for the subsequent panel dedicated to rare diseases. Lectures by topics.

Expected Outcomes
Upon completion of the module, participants are expected to:
• Define core public health concepts and functions.
• Explain how health policies are formulated and implemented.
• Distinguish between levels of prevention and types of interventions.
• Analyze structural features of health systems and their implications.
• Interpret epidemiological data in a policy-relevant manner.
• Recognize ethical dimensions of population-level decision-making.

Module 2 — Rare Diseases: Concepts & Systems
This module introduces the core scientific, clinical, and systemic dimensions of rare diseases, providing the bridge between the public health foundations of Module 1 and the One Health framework explored in Module 3. It offers a structured overview of how rare diseases are defined, diagnosed, managed, and supported across health care systems, with emphasis on genetics, clinical pathways, therapeutic development, and patient experience. Through this module, participants gain the analytical and practical competencies needed to understand rare diseases as complex, multi layered conditions shaped by biology, care structures, societal factors, and policy environments.

Expected Outcomes
Upon completion of the module, participants are expected to:
• Understand the scientific and clinical foundations of rare diseases
• Describe diagnostic and care pathways
• Understand the principles and challenges of therapeutic development
• Assess the impact of rare diseases on patients and families
• Evaluate the role of health-care systems and policies
• Integrate biological, clinical, social, and policy perspectives

Module 3 — Undiagnosed Diseases & Approach to Diagnosis
This module focuses on understanding undiagnosed diseases within clinical and public-health contexts. Participants will explore the causes, challenges, diagnostic pathways, and global structures supporting the Undiagnosed Diseases Programs (UDPs). The module emphasizes phenotyping, sequencing, functional studies, data sharing, and the discovery of new diseases.

Expected Outcomes
Upon completion of the module, participants are expected to:
• Understand the clinical and public-health dimensions of undiagnosed diseases
• Describe diagnostic pathways for undiagnosed diseases
• Understand the role of functional studies
• Recognize the importance of data sharing, matchmaking, and international collaboration
• Understand the role and organization of Undiagnosed Diseases Programs (UDPs) and global collaborative networks supporting diagnosis and research.
• Explore approaches to novel disease and gene discovery, integrating clinical, genomic, functional, and shared data.

Module 4 — Integrating Rare Diseases into One Health
This module will focus on providing participants with an integrated understanding of how human, animal, and environmental health systems intersect with rare disease prevention, surveillance, etiology, and management. This module connects population level frameworks with interdisciplinary collaboration, policy structures, and applied case studies.

Expected Outcomes
Upon completion of the module, participants are expected to:
• Understand the One Health approach and its relevance to rare diseases across human, animal, and environmental health.
• Recognize the interconnections between human, animal, and environmental factors in rare disease etiology, prevention, surveillance, and management.
• Apply population-level and One Health perspectives to the identification and understanding of rare disease determinants and risks.
• Understand the role of integrated surveillance and data sharing across human, animal, and environmental health systems.
• Evaluate the importance of interdisciplinary and cross-sector collaboration in addressing complex rare disease challenges.
• Explore how One Health principles can inform policies and practical interventions, using applied case studies to translate integrated approaches into public-health action.