International School on Rare Diseases

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International School on Rare Diseases

Directors:

Domenica Taruscio, ICORD Board Member, President of the Study Centre KOS, Roma, Italy. UDNI Co-founder and Board Member. Former Director National Centre Rare Diseases, Istituto Superiore di Sanità, Roma, Italy

Cynthia Tifft, ICORD President, NIH, USA

School Overview

The International School on Rare Diseases is an international educational initiative developed through the collaboration between the Study Centre KOS – Science, Art, Society (Rome, Italy) and ICORD.

The School offers a unique opportunity to explore the key challenges and emerging opportunities in the fiels of rare diseases through a global and multidisciplinary perspective. Bringing together internationally recognized experts, healthcare professionals, researchers, policymakers, patient advocates, and industry leaders, the program provides advanced knowledge, promotes the exchange of best practices, and encourages meaningful collaboration across disciplines, regions and geographical boundaries.

Main goal:

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

Language: ENGLISH

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

ECM Credits
For Italian participants: in order to obtain ECM credits, the course must be followed exclusively in webinar mode 90% of the time, as per ECM regulations.
Classes will be accessible in asynchronous within the next 24 hours, but attendance will not be subject to ECM evaluation.

For non-Italian participants: At the end of the course, non-Italian participants will receive a certificate of participation in the school. In order to receive ecm credits they will have to refer to the reference institution of their country.

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

MODULE 1 - FOUNDATIONS OF PUBLIC HEALTH

From Monday November 2, 2026 - to Wednesday November 11, 2026
14.00-16.00 CET

Module Co-Leads: Rumen Stefanov, Manuel Posada
Faculty: Eva Bermejo Sánchez, Joseph Giuliano, Pablo Durán 

General principles
This module provides the conceptual foundations of public health as a discipline, an organised societal function, and a field of policy and governance. It introduces the population-level perspective required to define health needs, measure disease burden, identify inequalities, set priorities, organise services, and evaluate public-health interventions. Rare diseases are used as the applied context throughout the module. Particular attention is given to the methodological and organisational challenges created by small populations, incomplete case ascertainment, fragmented data, diagnostic delay, unequal access, and the need for coordinated national and international responses.The module combines lectures, guided discussion, data interpretation, and a final individual applied assignment. The assignment will allow participants to integrate the concepts introduced during the four sessions and apply them to the adaptation of a hypothetical national health system for rare diseases.

Expected Outcomes
Upon completion of the module, participants are expected to:
• define the principal concepts, functions, and population orientation of public health;
• analyse determinants, inequalities, unmet needs, and barriers affecting rare-disease populations;
• interpret incidence, prevalence, case ascertainment, disease burden, and uncertainty in small populations;
• explain the purpose, design, strengths, and limitations of population-based rare-disease registries;
• explain the complementary use of the International Classification of Diseases and ORPHAcodes within health-information systems;
• understand how international rare-disease commitments can be translated into regional and national policies;
• evaluate health-system organisation, financing, governance, accessibility, equity, and sustainability in relation to rare diseases;
• apply ethical and legal principles to public-health decisions concerning access, priority-setting, data use, and resource allocation;
• identify priority health-system gaps and propose feasible adaptations involving registries, coding, referral pathways, specialised services, professional networks, financing, governance, and accountability;
• formulate measurable indicators for monitoring implementation of rare-disease policy and health-system interventions.

Day 1. Monday, November 2, 2026, 14.00-16.00 CET

Session 1: Public Health Foundations and Population Needs

Welcome and Module Overview: 14.00-14.10
Directors of the School: Domenica Taruscio, Cynthia Tifft
Module Co-Leads: Rumen Stefanov, Manuel Posada

Lecture 1: 14.10-14.40
Public Health and Population Health: Definitions, Core Functions, and Historical Evolution
Rumen Stefanov, Bulgaria

Lecture 2: 14.40-15.10
Population Health Needs and Inequalities: From Determinants and Disease Burden to Policy Priorities
Manuel Posada, Spain

Lecture 3: 15.10-15.40
Prevention and Public Health Interventions in Rare Diseases: The Example of Congenital Malformations
Eva Bermejo Sánchez,Spain

Discussion: 15.40-16.00
Rumen Stefanov, Manuel Posada, Eva Bermejo

Session 2: Rare-Disease Epidemiology, Registries and Coding

Welcome and Overview: 14.00-14.10
Rumen Stefanov, Manuel Posada

Lecture 1: 14.10-14.40
Epidemiological Reasoning for Rare Diseases: Case Definitions, Incidence, Prevalence, Case Ascertainment, Small Numbers, and Uncertainty
Manuel Posada, Spain

Lecture 2: 14.40-15.10
Population-Based Rare-Disease Registries and Surveillance: Design, Coverage, Data Quality, Linkage, Governance, and FAIR (Findable, Accessible, Interoperable and Reusable) Data Principles
Joe Giuliano, USA 

Lecture 3: 15.10-15.40
Coding Rare Diseases in Health-Information Systems: Complementary Use of the International Classification of Diseases and ORPHAcodes
Rumen Stefanov, Bulgaria 

Guided Data Exercise and Discussion: 15.40-16.00
Participants will examine a simplified rare-disease data scenario and identify methodological and organisational problems related to case ascertainment, denominators, geographical coverage, duplicate records, missing data, diagnostic coding, and selection bias. The exercise will illustrate how population-based registries, routine health-information systems, and complementary use of ICD and ORPHAcodes can support epidemiological surveillance, health planning, and policy development. 

Moderators: Rumen Stefanov, Manuel Posada, Joe Giuliano

Session 3: From Global Rare-Disease Policy to Regional and National Action

Welcome and Overview: 14.00-14.10
Rumen Stefanov, Manuel Posada, Pablo Durán 

Lecture 1: 14.10-14.40
PAHO/OPS: Rare diseases & public health strategic action plans 
Pablo Durán, PAHO/OPS/WHO Regional Office for the Americas

Lecture 2: 14.40-15.10
Rare Diseases WHO Resolution and how to develop it in the Americas(brief presentation of the Resolution followed by Q&A)
Pablo Durán, PAHO/OPS/WHO Regional Office for the Americas 

Lecture 3: 15.10-15.40
Strategies to harmonize health policies across Latin America and Caribbean countries
Pablo Durán, PAHO/OPS/WHO Regional Office for the Americas 

Moderators: Rumen Stefanov, Manuel Posada, Pablo Durán

Session 4: Health-System Adaptation and Public-Health Decision-Making 

Welcome and Overview: 14.00-14.10
Rumen Stefanov, Manuel Posada 

Lecture 1: 14.10-14.40
Health Systems and Rare Diseases: Organisation, Financing, Governance, Universal Health Coverage, Equity, and Sustainability
Rumen Stefanov, Bulgaria 

Lecture 2: 14.40-15.10
Ethics and Law in Public-Health Decision-Making for Rare Diseases: Justice, Solidarity, Proportionality, Autonomy, Privacy, and Data Governance
Rumen Stefanov, Bulgaria 

Applied Case Introduction: 15.10-15.40
Adapting a National Health System for Rare Diseases
Rumen Stefanov, Manuel Posada 

Participants will be introduced to a hypothetical national health-system scenario incorporating the principal issues discussed throughout Module 1, including:

- incomplete epidemiological information;
- limited use of rare-disease-specific coding
- diagnostic delay;
- geographical inequalities in access;
- fragmented referral and care pathways;
- limited availability of centres of expertise and professional networks;
- financing and reimbursement challenges;
- insufficient coordination between institutions;
- patient participation and accountability.

The case will form the basis of the individual final applied assignment. Participants will complete the assignment individually after the module and submit it by e-mail within one week of the final session.  

Final Discussion, Questions, and Assignment Instructions: 15.40-16.00
Rumen Stefanov, Manuel Posada

From Monday November 16, 2026 - to Wednesday, Nov. 25, 2026 
14.00-16.00 CET

Module Leads: Cynthia Tifft, Maria Teresa Acosta
Faculty: Kathy Flynn, Steven Groft, Secundo Mariz, Cynthia Powell, Debra S. Regier, Heidi L. Rehm, Marco Salvatore, Maurizio Scarpa, Kert Viele

General Principles
This module will focus on the core scientific, clinical, and systemic dimensions of rare diseases in the context of public health including how rare diseases are defined, diagnosed, managed and supported across health-care systems, with emphasis on genetics, clinical pathways, therapeutic development and patient experience

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

Day 1. Monday, November 16, 2026 14.00 – 16.00

Welcome and Overview: 14.00-14.10
Cynthia Tifft, Maria Acosta 

Lecture 1: 14.10-14.40
The rare disease landscape at the global level
Steven Groft, USA 

Lecture 2:  14.40-15.10
Overview of clinical genetics including Mendelian inheritance, penetrance & expressivity
Debra S. Regier, USA 

Lecture 3:  15.10-15.40 
Current and emerging genetic testing and diagnostics
Heidi L. Rehm, USA 

Discussion:  15.40-16.00

Welcome and Overview: 14.00-14.10
Cynthia Tifft, Maria Acosta 

Lecture 1: 14.10-14.40 
Access to care and management of rare diseases the importance of multidisciplinary teams
Maurizio Scarpa, Italy 

Lecture 2:  14.40-15.10
Therapeutic approaches to rare diseases: standard of care and emerging biologics
Cynthia J. Tifft, USA 

Lecture 3:  15.10-15.40 
Clinical trial design for small populations including natural history comparators, Bayesian modeling and decentralized trials
Kert Viele, USA 

Discussion:  15.40-16.00

Welcome and Overview 14.00-14.10
Cynthia Tifft, Maria Acosta 

Lecture 1: 14.10-14.40
The development of orphan drugs for rare diseases: regulatory frameworks and incentives
Secundo Mariz, EMA, The Netherlands  

Lecture 2:  14.40-15.10
Quality of Life Assessments in rare diseases- using functional burden, emotional impact and caregiver strain as measures of efficacy in clinical trials
Roberto Giugliani, Brazil

Lecture 3:  15.10-15.40
The role of advocacy organizations in rare diseases: education, fundraising, research facilitation and policy impact
Kathy Flynn, USA 

Discussion:  15.40-16.00

Welcome and Overview 14.00-14.10
Cynthia Tifft, Maria Acosta 

Lecture 1: 14.10-14.40
From data to better care and quality of life: the example of the cystic fibrosis registry.
Marco Salvatore, Italy 

Lecture 2:  14.40-15.10
System-wide implications of rare diseases: cost effectiveness of diagnosis, reimbursement for high-cost treatments, and universal newborn screening.
Cynthia Powell, USA 

Lecture 3: 15.10-16.00
Case Presentation & Discussion summarizing Module 2 principles 
Cynthia Tifft & Maria Acosta 

From Monday, November 30, 2026 - to Wednesday, December 9, 2026

Module Co-Leads: William Gahl, David Pearce, USA
Faculty: David Adams, Thomas Cassini, Helene Cederroth, Sesh Cole, Priya S. Kishnani, Kim LeBlanc, May Malicdan, Domenica Taruscio, Lynne Wolfe, Shinya Yamamoto 

General Principles
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. 

Day 1. Monday, November 30, 2026, 14.00 – 16.00 CET

Welcome and Overview: 14.00-14.10
William Gahl, David Pearce, USA

Lecture 1: 14.10-14.40
The NIH UDP Model: What is an Undiagnosed Disease? What defines a new disease discovery? Collaborative Networks and Matchmaking Platforms
Lynne Wolfe, David Adams, May Malicdan, NIH

Lecture 2: 14.40-15.10
Global variation in diagnostic resources. How can we increase diagnostic capability in low and middle-income countries?
Domenica Taruscio, Rome

Lecture 3: 15.10-15.40. 
Burden of not having a diagnosis: patients and caregivers perspective
Helene Cederroth, Wilhelm Foundation

Discussion: 15.40-16.00

Welcome and Overview 14.00-14.10
William Gahl, David Pearce 

Lecture 1: 14.10-14.40.
Burden of not having a diagnosis: Economic and healthcare-utilization impacts
Kim LeBlanc, UDN Coordinating Center, Harvard

Lecture 2: 14.40-15.10.
What’s in a Name?  The value of a diagnosis for clinical management, prognosis and surveillance
Priya Kishnani, Duke

Lecture 3: 15.10-15.40. 
What’s in a Name? The value of a diagnosis for treatment, clinical trials and family planning
Rhiannon Edwards and/or Jamie Duckers
Cardiff, Wales

Discussion: 15.40-16.00

Welcome and Overview 14.00-14.10
William Gahl, David Pearce 

Lecture 1: 14.10-14.40
The Approach to Diagnosis: Deep phenotyping, imaging, next generation sequencing and sequence reanalysis
Thomas Cassini, Vanderbilt

Lecture 2: 14.40-15.10.
The Approach to Diagnosis: functional studies and model organisms
Shinya Yamamoto, Baylor

Lecture 3: 15.10-15.40. 
Therapy in Newly Discovered Disorders: mechanism-based therapy, drug repurposing, gene therapies and personalized medicine
Sesh Cole, Washington University in St. Louis

Discussion: 15.40-16.00

Welcome and Overview 14.00-14.10
William Gahl, David Pearce 

Lecture 1: 14.10-14.40
Rare Diseases: Ethical, legal and policy considerations, data sharing, and the value of registries
Monica McClain Drum, RDI

Lecture 2:  14.40-15.10
Communication Matters: How to talk about genetics and undiagnosed disease programs with your patients with lower health literacy
Emma Palmer, Sydney

Case Presentation & Discussion summarizing Module 3 principles: 15.10-16.00. 

From Monday January 11, 2027 to Wednesday January 20, 2027 14.00-16.00 CET

Module Leads: Domenica Taruscio, Alberto Mantovani
Faculty: Maria Grazia Dente, Angela Genova, Gregory Winston Gilcrease, Babak Khoshnood, Pablo Menendez Carlos Gonçalo das Neves, Savino Sciascia, Celina Turchi

General Principles
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.

Session 1. One Health: principles, conceptual foundations, from science to policy

Welcome and Module Overview: 14.00-14.10
Module Co-Leads: Domenica Taruscio, Alberto Mantovani

Lecture 1: 14.10 - 14.40
One Health Principles: conceptual foundations linking human, animal, and environmental health.
Carlos Gonçalo das Neves, European Food Safery Authority 

Lecture 2:14.40-15.10
Rationale for applying One Health to rare diseases, including shared risk factors, cross-species biological mechanisms, and ecological influences.
Domenica Taruscio, Italy 

Lecture 3: 15.10-15.40
From science to policy: the Technical Advisory Group for One Health of World Health Organization- European Region
Alberto Mantovani, Italy 

Discussion: 15.40-16.00
Alberto Mantovani, Carlos Gonçalo das Neves, Domenica Taruscio

Session 2. Environmental and Ecosystem Factors in the One Health perspective.
One Health outlook on environmental determinants that influence the emergence, progression, detection, or distribution of rare diseases. 

Welcome and Overview 14.00-14.10
Domenica Taruscio, Alberto Mantovani 

Lecture 1: 14.10-14.40 
Environmental issues in One Health
Alberto Mantovani, Italy

Lecture 2: 14.40-15.10
Registries of birth defects: the search for risk factors
Babak Khoshnood, France

Lecture 3:  15.10-15.40 
Environmental toxic exposures and rare diseases
Alberto Mantovani, Italy 

Discussion: 15.40-16.00

Moderators: Babak Khoshnood, Alberto Mantovani, Domenica Taruscio

Session 3: Social and  Govenance aspects
One Health outlook on the social factors and governance issues that shape surveillance, prevention, outcomes, and vulnerability in rare disease populations. 

Welcome and Overview: 14.00-14.10
Domenica Taruscio, Alberto Mantovani 

Lecture 1:  14.10-14.40 
Governance of cross-sectional collaboration
Maria Grazia Dente, Italy 

Lecture 2: 14.40-15.10
Social determinants and cultural influences, ethical and equity in the context of rare diseases.
Angela Genova, Italy 

Lecture 3: 15.10-15.40
Sustainable development and health governance: the standpoint of rare diseases
Gregory Winston Gilcrease, Savino Sciascia, Italy 

Discussion: 15.40-16.00

Moderators: Maria Grazia Dente, Angela Genova, Gregory, Winston Gilcrease, Alberto Mantovani, Savino Sciascia, Domenica Taruscio

Session 4. One Health Case Studies on multifactorial rare diseases.
Examples to illustrate how rare diseases arise from complex interactions across domains: application of One Health frameworks to multifactorial rare disease systems. 

Welcome and Overview: 14.00-14.10
Domenica Taruscio, Alberto Mantovani 

Lecture 1: 14.10-14.40
Zika virus
Celina Turchi, Brazil

Lecture 2: 14.40-15.10
Childhood leukemia
Pablo Menendez, Spain

Lecture 3: 15.10-15.40
Hereditary angioedema
Giuseppe Novelli, Italy 

Discussion: 14.40-16.00

Moderators: Alberto Mantovani, Pablo Menendez, Giuseppe Novelli, Domenica Taruscio, Celina Turchi

16.00 – 16-30
Conclusions of the International School
Domenica Taruscio, Cyndi Tifft

AFFILIATION

Maria Teresa Acosta. ICORD Board Member. Pediatric Neurologist. Gene Therapy Program GM1. National Human Genome Research Institute. Undiagnosed Disease Program, National Institutes of Health, USA 
David R. Adams. Co-Director, NIH Undiagnosed Diseases Program, NHGRI/NIH, USA
Eva Bermejo Sánchez. Director, Scientific Researcher, Institute for Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Sapin 
Thomas Cassini. Associate Director, Potocsnak Center for Undiagnosed and Rare Disorders, Vanderbilt University Medical Center, USA
Helene Cederroth. Founder and Chair, Wilhelm Foundation; Co-founder and Board Member, UDNI, Sweden
Sesh Cole. Professor of Pediatrics, Department of Pediatrics, Washington University in St. Louis School of Medicine; Undiagnosed Diseases Network (UDN), USA
Carlos Gonçalo das Neves. Chief scientific officer of European Food Safety Authority, co-chair of the One Health High-Level Expert Panel (OHHLEP)
Maria Grazia Dente. Senior Scientist, National Center for Global Health, Istituto Superiore di Sanità, Roma, Italy 
Jamie Duckers. National Clinical Lead for Rare Disease, Wales; Cardiff and Vale University Health Board, UK
Pablo Durán. Regional Advisor in Perinatal Health Life Course, Women’s and Children’s Health UnitHealth Systems and Services Department, PAHO/OPS/WHO Regional Office for the Americas
Rhiannon Edwards. Rare Disease Consultant Nurse, Cardiff and Vale University Health Board, Wales, UK
Kathy Flynn. Chief Executive Officer, National Tay-Sachs & Allied Diseases Association (NTSAD), USA
William Gahl. NIH, USA
Angela Genova. Professor in Sociology, Urbino University Carlo Bo, Italy 
Gregory Winston Gilcrease. Sustainability in Health Master's program, University of Turin, Italy 
Roberto Giugliani. UFRGS and Casa dos Raros, UDNI Board Member, Porto Alegre, Brazil
Joseph Giuliano. Founder & Managing Director @ Rare Medical Affairs LLC, Princeton, New Jersey, USA 
Stephen C. Groft. Former Director, Office of Rare Diseases Research, NIH; ICORD Board Member, USA
Babak Khoshnood. The French National Institute of Health and Medical Research (INSERM). INSERM U1153, Equipe OPPaLE Paris, France 
Priya S. Kishnani. Chief, Division of Medical Genetics, Duke University School of Medicine, USA
Kimberly LeBlanc. Senior Director, UDN Coordinating Center, Harvard Medical School, USA
May Christine V. Malicdan. Director of Translational Research, NIH Undiagnosed Diseases Program, NHGRI/NIH, USA
Alberto Mantovani. Vice-President of the Study Centre KOS, Roma, Italy. Member of Risk Assessment Committee – European Chemical Agency, past Member of Technical Advisoy Group for One Health- WHO Europe
Segundo Mariz. Orphan Medicines Office, European Medicines Agency (EMA), The Netherlands
Monica McClain Drum. Senior Global Programme Manager, Rare Diseases International (RDI), France
Pablo Menendez. Josep Carreras Leukemia Research Institute, Barcelona, Spain; Red Española de Terapias Avanzadas (TERAV) - Instituto de Salud Carlos III (ISCII), Madrid, Spain; Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, Spain 
Giuseppe Novelli. Full professor of Medical Genetics, Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Italy, UDNI Member
Elizabeth Emma Palmer. Associate Clinical Professor at UNSW Sydney and a Clinical Geneticist at Sydney Children’s Hospitals Network
David A. Pearce. Chair, IRDiRC, WF UDNI; Sanford Research, USA
Manuel Posada. Full Research Professor, MD, PhD. Coordinator of the Iberoamerican Network of Health Expert on Rare Diseases (RIBERSER), Foundation CSAI, Ministry of Health, Spain. ICORD Auditor.
Cynthia M. Powell. Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, USA
Debra S. Regier. Chief of Genetics and Metabolism, Children’s National Hospital; Professor of Pediatrics, George Washington University School of Medicine and Health Sciences, USA
Heidi L. Rehm. Chief Genomics Officer, Massachusetts General Hospital; Broad Institute of MIT and Harvard; Harvard Medical School, USA
Marco Salvatore. Senior Researcher, Head, Interdepartmental Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy 
Maurizio Scarpa. Full Professor, Director Rare Disease Program IRCCS San Gerardo dei Tintori Foundation Monza, Italy; Coordinator, MetabERN, Italy
Savino Sciascia. Professor, Department of Clinical and Biological Sciences, University of Turin; Sustainability in Health Master’s Programme; UDNI, Italy
Rumen Stefanov. ICORD Past President; Chair, Department of Social Medicine and Public Health, Medical University of Plovdiv, Bulgaria. Director, Institute for Rare Diseases, Bulgaria
Domenica Taruscio. ICORD Board Member, President of the Study Centre KOS, Roma, Italy. UDNI Co-founder and Board Member. Former Director National Centre Rare Diseases, Istituto Superiore di Sanità, Roma, Italy 
Cynthia Tifft. ICORD President, NIH, USA
Celina Turchi. Federal University of Pernambuco, Recife, Brazil
Kert Viele. Senior Statistical Scientist, Berry Consultants, LLC, USA 
Lynne Wolfe. NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, USA
Shinya Yamamoto. Co-Director UDN Model Organisms Screening Center Baylor College of Medicine, USA