15G.04 · Maladies rares et partenariat patient

Rare diseases and patient partnership

Personne, Santé, Société (PSS) 2025-2026 · 53 pages

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Rare Diseases & Patient Partnership

1Recording Notice 2Title Slide 3Outline & Objectives

Rare Disease Concept

4Iceberg Metaphor 5Historical Milestones 6What Is a Rare Disease?7Definition & Key Facts 8Epidemiology (Orphanet 2026)9Prevalence Threshold 10"The Rare Is Common"11Gene Discovery Trends 12Impact by Body System 13Named Disease Examples 14Treatment Gap

Living with a Rare Disease

15Challenges Overview 16Diagnostic Odyssey Pathway 17Diagnostic Delay Survey 18Importance of Diagnosis

EU Policies & Initiatives

19Public Health Issue 20European Initiatives Overview 21EUROPLAN National Plans 22ERN Introduction 23ERN Mission

24Introduction 25Overview & History 26Missions 27Equal Access to Knowledge 28Scale & Reach 29Swiss Portal (orphanet.ch)30Knowledge Base Structure 31Disease Page Example (Marfan)32Expert Services Directory 33Why Coding Matters 34ORPHAcodes (Fanconi-Bickel)35ORPHAcodes Interoperability 36Mission Statement 37ORPHAcodes Video

Patient Initiatives in Switzerland

38Switzerland Transition 39Patient Vignette: Diagnosis 40Patient Vignette: Daily Life 41Sanfilippo Foundation & PASSO 42Swiss RD Timeline (2001–2025)43Swiss Reference Centers (kosek)44Reference Center Map (78 Centers)45HUG Rare Disease Center 46HUG Center Web Portal 47ProRaris Alliance 48Parent-Driven Research

Rare Disease Day

49Global Awareness Campaign 50Zebra Symbol

51Take-Home Messages 52Infographic Recap 53Closing Slide

15G.04Page 1Rare Diseases & Patient PartnershipRecording Notice

Maladies rares et partenariat patient page 1

15G.04Page 2Rare Diseases & Patient PartnershipTitle Slide

Maladies rares et partenariat patient page 2

15G.04Page 3Rare Diseases & Patient PartnershipOutline & Objectives

Maladies rares et partenariat patient page 3

15G.04Page 4Rare Diseases & Patient PartnershipRare Disease ConceptIceberg Metaphor

Maladies rares et partenariat patient page 4

15G.04Page 5Rare Diseases & Patient PartnershipRare Disease ConceptHistorical Milestones

Maladies rares et partenariat patient page 5

15G.04Page 6Rare Diseases & Patient PartnershipRare Disease ConceptWhat Is a Rare Disease?

Maladies rares et partenariat patient page 6

15G.04Page 7Rare Diseases & Patient PartnershipRare Disease ConceptDefinition & Key Facts

Maladies rares et partenariat patient page 7

15G.04Page 8Rare Diseases & Patient PartnershipRare Disease ConceptEpidemiology (Orphanet 2026)

Maladies rares et partenariat patient page 8

15G.04Page 9Rare Diseases & Patient PartnershipRare Disease ConceptPrevalence Threshold

Maladies rares et partenariat patient page 9

15G.04Page 10Rare Diseases & Patient PartnershipRare Disease Concept"The Rare Is Common"

Maladies rares et partenariat patient page 10

15G.04Page 11Rare Diseases & Patient PartnershipRare Disease ConceptGene Discovery Trends

Maladies rares et partenariat patient page 11

15G.04Page 12Rare Diseases & Patient PartnershipRare Disease ConceptImpact by Body System

Maladies rares et partenariat patient page 12

15G.04Page 13Rare Diseases & Patient PartnershipRare Disease ConceptNamed Disease Examples

Maladies rares et partenariat patient page 13

15G.04Page 14Rare Diseases & Patient PartnershipRare Disease ConceptTreatment Gap

Maladies rares et partenariat patient page 14

15G.04Page 15Rare Diseases & Patient PartnershipLiving with a Rare DiseaseChallenges Overview

Maladies rares et partenariat patient page 15

15G.04Page 16Rare Diseases & Patient PartnershipLiving with a Rare DiseaseDiagnostic Odyssey Pathway

Maladies rares et partenariat patient page 16

15G.04Page 17Rare Diseases & Patient PartnershipLiving with a Rare DiseaseDiagnostic Delay Survey

Maladies rares et partenariat patient page 17

15G.04Page 18Rare Diseases & Patient PartnershipLiving with a Rare DiseaseImportance of Diagnosis

Maladies rares et partenariat patient page 18

15G.04Page 19Rare Diseases & Patient PartnershipEU Policies & InitiativesPublic Health Issue

Maladies rares et partenariat patient page 19

15G.04Page 20Rare Diseases & Patient PartnershipEU Policies & InitiativesEuropean Initiatives Overview

Maladies rares et partenariat patient page 20

15G.04Page 21Rare Diseases & Patient PartnershipEU Policies & InitiativesEUROPLAN National Plans

Maladies rares et partenariat patient page 21

15G.04Page 22Rare Diseases & Patient PartnershipEU Policies & InitiativesERN Introduction

Maladies rares et partenariat patient page 22

15G.04Page 23Rare Diseases & Patient PartnershipEU Policies & InitiativesERN Mission

Maladies rares et partenariat patient page 23

15G.04Page 24Rare Diseases & Patient PartnershipOrphanetIntroduction

Maladies rares et partenariat patient page 24

15G.04Page 25Rare Diseases & Patient PartnershipOrphanetOverview & History

Maladies rares et partenariat patient page 25

15G.04Page 26Rare Diseases & Patient PartnershipOrphanetMissions

Maladies rares et partenariat patient page 26

15G.04Page 27Rare Diseases & Patient PartnershipOrphanetEqual Access to Knowledge

Maladies rares et partenariat patient page 27

15G.04Page 28Rare Diseases & Patient PartnershipOrphanetScale & Reach

Maladies rares et partenariat patient page 28

15G.04Page 29Rare Diseases & Patient PartnershipOrphanetSwiss Portal (orphanet.ch)

Maladies rares et partenariat patient page 29

15G.04Page 30Rare Diseases & Patient PartnershipOrphanetKnowledge Base Structure

Maladies rares et partenariat patient page 30

15G.04Page 31Rare Diseases & Patient PartnershipOrphanetDisease Page Example (Marfan)

Maladies rares et partenariat patient page 31

15G.04Page 32Rare Diseases & Patient PartnershipOrphanetExpert Services Directory

Maladies rares et partenariat patient page 32

15G.04Page 33Rare Diseases & Patient PartnershipOrphanetWhy Coding Matters

Maladies rares et partenariat patient page 33

15G.04Page 34Rare Diseases & Patient PartnershipOrphanetORPHAcodes (Fanconi-Bickel)

Maladies rares et partenariat patient page 34

15G.04Page 35Rare Diseases & Patient PartnershipOrphanetORPHAcodes Interoperability

Maladies rares et partenariat patient page 35

15G.04Page 36Rare Diseases & Patient PartnershipOrphanetMission Statement

Maladies rares et partenariat patient page 36

15G.04Page 37Rare Diseases & Patient PartnershipOrphanetORPHAcodes Video

Maladies rares et partenariat patient page 37

15G.04Page 38Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandSwitzerland Transition

Maladies rares et partenariat patient page 38

15G.04Page 39Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandPatient Vignette: Diagnosis

Maladies rares et partenariat patient page 39

15G.04Page 40Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandPatient Vignette: Daily Life

Maladies rares et partenariat patient page 40

15G.04Page 41Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandSanfilippo Foundation & PASSO

Maladies rares et partenariat patient page 41

15G.04Page 42Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandSwiss RD Timeline (2001–2025)

Maladies rares et partenariat patient page 42

15G.04Page 43Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandSwiss Reference Centers (kosek)

Maladies rares et partenariat patient page 43

15G.04Page 44Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandReference Center Map (78 Centers)

Maladies rares et partenariat patient page 44

15G.04Page 45Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandHUG Rare Disease Center

Maladies rares et partenariat patient page 45

15G.04Page 46Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandHUG Center Web Portal

Maladies rares et partenariat patient page 46

15G.04Page 47Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandProRaris Alliance

Maladies rares et partenariat patient page 47

15G.04Page 48Rare Diseases & Patient PartnershipPatient Initiatives in SwitzerlandParent-Driven Research

Maladies rares et partenariat patient page 48

15G.04Page 49Rare Diseases & Patient PartnershipRare Disease DayGlobal Awareness Campaign

Maladies rares et partenariat patient page 49

15G.04Page 50Rare Diseases & Patient PartnershipRare Disease DayZebra Symbol

Maladies rares et partenariat patient page 50

15G.04Page 51Rare Diseases & Patient PartnershipSummaryTake-Home Messages

Maladies rares et partenariat patient page 51

15G.04Page 52Rare Diseases & Patient PartnershipSummaryInfographic Recap

Maladies rares et partenariat patient page 52

15G.04Page 53Rare Diseases & Patient PartnershipSummaryClosing Slide

Maladies rares et partenariat patient page 53