重视罕见病：数据驱动万亿级产业新机遇.docxVIP

MakingRareDiseasesCount:HowBetterDataCanUnlockaMultitrillion-DollarOpportunity

WHITEPAPER

FEBRUARY2026

Images:GettyImages

Contents

Foreword3

Executivesummary4

1Whyinvestinginrarediseasesmatters5

1.1Thehumanimpactofrarediseases7

1.2Reducingcostsandunlockingeconomicgains9

1.3Advancingscientificdiscoveryandhealthcareinnovation10

1.4Thevirtuouscycle:Howrarediseaseinvestmentscompound12

2Unlockingimpactwithbetterdata:Fivestrategiesforsuccess13

2.1Defineandtracka‘minimumdataset’acrosscountries14

2.2Strengthenpatientengagementindatacollection15

2.3Improvenewbornscreeninganddiagnosticcapacity17

2.4Enabletrusteddatasharingacrosshealthsystems19

2.5UseAIanddigitaltoolstoaddressevidencegaps21

3Tailoringstrategiestolocalcontexts23

3.1BuildinghealthcaresystemcapacityinLMICs24

3.2Maximizingimpactinhigh-incomecountries26

Conclusion28

Contributors30

Endnotes