Introduction
Digital twins are dynamic, real-time digital models of individual patients that can be used to simulate disease progression, predict treatment response, and optimize care pathways. Their application in healthcare is expanding rapidly, but their relevance is particularly significant for rare diseases and small patient populations, where they may help simulate interventions in silico, reduce the burden of participation in clinical trials, and support more personalized therapy development. They may also provide a valuable framework for patient involvement, including meaningful patient involvement throughout, with explicit emphasis on co-creation in the design, governance, and implementation of research, policy, and care approaches. Despite this potential, there is currently no consolidated overview of how digital twins are being applied in rare disease research and care, nor clear guidance on how to translate emerging approaches into responsible and actionable practice
Objectives
The primary objective is to assess the opportunities and barriers for digital twins in rare disease contexts and to develop a roadmap and practical guidance for the field. The Task Force will:
- Produce a rare disease-focused review article, together with a roadmap and guidance document, with concrete recommendations on next steps for the community.
- Map the global landscape of digital twin initiatives with direct or indirect relevance to rare diseases.
- Identify the specific gaps and challenges affecting rare disease patients, including data scarcity, non-representative datasets, limited interoperability, insufficient regulatory guidance, and the need for more explicit ethical, legal, and social implications (ELSI) frameworks adapted to rare disease settings.
- Analyze how existing IRDiRC resources, such as the Orphan Drug Development Guidebook, the Digital Biomarkers Working Group, and the N=1 Task Force, can serve as anchors for digital twin implementation.
- Examine how meaningful patient involvement can be embedded throughout, with explicit emphasis on co-creation in the design, governance, and implementation of research, policy, and care approaches.
Timeline
Task Force Assembly Q1-2026
Face-to-face meeting Q1-2027
Recommendations Q2-2027
Members
- Diana Kwast-Hoekstra (Co-Chair) – (Un)limited Forward!, University Medical Center Groningen, Netherlands
- Anneliene Jonker (Co-Chair) – University of Twente, Netherlands
- Anthony Lockett – King’s College London, UK
- Asuka Kawashi – Rare Cancer Translational Oncology, National Cancer Center, Japan
- Kris Kusidlo – European Central Bank, Germany
- Christine Mutena – Rare Disorders Kenya, Kenya
- Catarina Carrao – BioSciPons, Austria
- Jain Priyanshi – RadiantGraph, USA
- Mary Jane Dykeman – INQ Law, Canada
- Nikos Marinakis – Democritus University of Thrace, Greece
- Timo Lassmann – Telethon Kids Institute, University of Western Australia, Australia
- Juan Moises – Universidad Internacional de La Rioja, Spain
- Ayse Candayan-Niron – University Antwerpen, Belgium
- Süheyla Türkyılmaz – Sabancı University, Turkey
- Maria Judit Molnar – Semmelweis University, Hungary
- Samanta Parker – Italfarmaco, France
- Sanjay Ahuja – Regal Intel, USA