Title page

Contents

Introduction 2

Document summary 2

Policy Context 3

An update on progress in 2019/20 5

Theme 1. Empowering Those Affected by Rare Diseases 5

Theme 2. Identifying and Preventing Rare Diseases 6

Theme 3. Diagnosis and Early Intervention 8

Theme 4. Coordination of Care 9

Theme 5. The Role of Research in Rare Diseases 10

Annex 1. 2020 actions to implement the 51 commitments 14

Annex 2. Measuring Tangible Progress 22

Annex 3. UK Rare Disease Forum Conference 2019 Agenda 29