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