Making Rare Diseases Count 2026

Images: Getty Images Disclaimer This document is published by the World Economic Forum as a contribution to a project, insight area or interaction. The findings, interpretations and conclusions expressed herein are a result of a collaborative process facilitated and endorsed by the World Economic Forum but whose results do not necessarily represent the views of the World Economic Forum, nor the entirety of its Members, Partners or other stakeholders. © 2026 World Economic Forum. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, including photocopying and recording, or by any information storage and retrieval system.Contents Foreword 3 Executive summary 4 1 Why investing in rare diseases matters 5 1.1 The human impact of rare diseases 7 1.2 Reducing costs and unlocking economic gains 9 1.3 Advancing scientific discovery and healthcare innovation 10 1.4 The virtuous cycle: How rare disease investments compound 12 2 Unlocking impact with better data: Five strategies for success 13 2.1 Define and track a ‘minimum dataset’ across countries 14 2.2 Strengthen patient engagement in data collection 15 2.3 Improve newborn screening and diagnostic capacity 17 2.4 Enable trusted data sharing across health systems 19 2.5 Use AI and digital tools to address evidence gaps 21 3 Tailoring strategies to local contexts 23 3.1 Building healthcare system capacity in LMICs 24 3.2 Maximizing impact in high-income countries 26 Conclusion 28 Contributors 30 Endnotes 32 Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 2