Detailed programme and Presentations:

Below is a list of the Themes from ECRD 2018. You can find the Theme description and electronic versions of the presentations given in each Theme by clicking on the theme title to reveal the links.

Opening & Plenary Sessions

Opening & Plenary agenda

Opening Plenary Presentations
Lene Jensen – Rare disease patients and goals
Maria Prähofer – Research as a chance – a patients perspective

Closing Plenary Presentations
Lauren Roberts – Comments from Theme 1
Julian Isla – The digital patient: Take home remarks

Theme 1: Structuring the Research & Diagnosis Landscape

Theme 1 Programme

Session 0101
Olaf Riess – State of the art: Diagnosing Genetic Diseases
Isabelle Bros – Video presentation
Alessandra Renieri – Exome Diagnostic rates
Lauren Roberts – Keeping patients at the heart of diagnostic advancements

Session 0102
Diego Ardigo – Overview of the major bottlenecks in translating research
Daniel Lewi – How to get research done on your rare disease
Alison Metcalfe – How to develop and adapt a co-design model to design interventions for communicating genetic diagnoses
Lucia Monaco – How to make exploitable research?
Jon Timmis – Crack-IT Challenges from an Industry Perspective

Session 0103
Dimitrios Athanasiou – Megafunds: The concept
Heather Etchevers – The challenges and opportunities of crowdfunding rare disease research
Majid Jafar – How can a non-profit advance research into a specific rare disease?
Daria Julkowska – Innovative funding partnerships: challenges & opportunities

Session 0104
Virginie Bros-Facer – Why and how can patients be trained in scientific research to become stronger partners?
Orion Buske – Building tools to empower patient experts
Sean Kelly – “Together we are stronger” Patient associations joining forces to fund rare disease research

Session 0105
Heidi Howard – Genome Editing Brief Overview

Theme 2: Breakthrough Medicines On the Horizon: Regulators, Health Technology Assessment (HTA) Experts And Patients Working Together

Theme 2 Programme

Session 0201
Zahra Hanaizi – PRIME: where are we in May 2018
Steven Hall – Can PRIME attract innovation towards unmet needs / disruptive medicines?
Violeta Stoyanova-Beninska – Experience of the Committee for Orphan Medicinal Products

Session 0202
Matteo Scarabelli –  Prepare the contribution of patients in regulatory/HTA procedures
François Meyer – HTA Bodies Cooperation on Early Dialogues: Recent Advances
Anne Willemsen – Current eu cooperation on health technology assessors: EUnetHTA

Session 0203
Nathalie Bere – Patient Engagement at EMA; latest developments
Rob Camp – Patients & sponsors: Regulatory Authorities & HTA Bodies
Sabine Ettinger – Patient involvement in EUnetHTA assessments on non-pharmaceutical technologies

Session 0204
Diego Ardigo – Drug repurposing
Viviana Giannuzzi – Abandoned OMPs
Kristina Larsson – Horizon scanning: Products in development and beyond
Violeta Stoyanova-Beninska – Characteristics of the 1800+ Orphan designated products

Session 0205
Flora Giorgio – Proposal for a regulation of the European Parliament and of the Council on health technology assessment and amending Directive 2011/24/EU 
Mirjana Huic – The future of HTA cooperation in Europe: What an HTA Agency can expect
François Houÿez – Transparent, timely and high quality HTA everywhere in the EU in our interest
Ansgar Hebborn – EC proposal for a regulation on HTA

Theme 3:The Digital Patient

Theme 3 Programme

Session 0301
Vytautas Kašėta – The digital patient
David Martín Lindström – Cybersecurity in Healthcare
Linn Parrish – The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
Ivo Ramos – Atos Research & Innovation

Session 0302
Orion Buske – Why is sharing data with researchers so important?
Marc Hanauer –  Health sensitive data in real life
Marius Pareščius – Cybersecurity

Session 0303
Zoi Kolitsi – Patient centric European electronic patient records – from promise to delivery?
Henrique Martins – EC Digital Single Market Strategy
Tapani Piha – EU Strategy for Digital Transformation in Cross-Border Healthcare

Session 0304
Magdalena María Marx  – Results of RD-Action WP5: Steering, maintaining and promoting the adoption of Orphacodes across MS
Anna Rath – Interoperability forrare diseases data across fields and countries
Elisa Salamanca- Interoperability  at national & European level
Rima Nabbout – An update on virtual care in rare and complex epilepsies
Sofia Douzgou – How virtual health care is happening in ERN-ITHACA

Session 0305
Claudia Crocione – Developement of the VASCERN Mobile APP
Elin Haf Davies – Case studies of remote patient monitoring: use of wearables 
Kristina Larsson – Qualification of Novel Methodologies: A key regulatory tool to facilitate drug development
Elizabeth Vroom – Duchenne Data Platform
Julian Isla – Artificial intelligence for RD – The diagnosis odyssey

Theme 4:Quality of Life: making what matters, matter

Theme 4 Programme

Session 0401
Sofia Douzgou – The role of European Reference Networks in developing and taking into account Quality of Life Indicators in health care provision
Jakob Bjorner – Overview of Traditional Quality of Life Assessment Methodologies
Avril Daly – Impact of Rare Disease Quality of Life: What it means in real terms for PLWRD

Session 0402
Pauline Evers – QOL in HTA decisions Dutch experience
Karl-Johan Myrén – Must start with Patients’ experience of how symptoms affect daily life and QoL
Ri De Ridder – KCE report

Session 0403
Anna Rath et al. – Orphanet disability project: key findings
Raquel Castro – Disability: unveiling the invisible double-burden of rare diseases
Heidemarie Egger – The UN CRPD: principles and attributes

Session 0404
Beata Ferencz – Integrated care
Dorica Dan – Case management at NoRo Centre in Romania (INNOVCare project)
Anja Diem – Experience in setting up integrated care

Session 0405
Anders Olauson – Healthcare in 30 years from now
Cortney Coleman – Vision from young patient advocates
Synne Lerhol – Vision from young patient advocates

Theme 5:Economical Perspectives in Rare Diseases
Theme 5 Programme

Session 0501
Lise Murphy – The economic impact of rare disease
Mondher Toumi – Case Study in Huntington’s Disease Burden
Mariangela Pellegrini – Cross Border Health: ERN-EuroBloodNet’s overview for reaching equal access to care across EU MS
Jamie O’Hara – CHESS 1

Session 0502
Tim Wilsdon – The Impact of the Orphan Medicines Regulation

Session 0503
Michael Schlander – Introduction
Michael Schlander – A Paradigm Shift in Value Frameworks for Access
Sheela Upadhyaya – Highly Specialised Technologies Programme at NICE
Jeff Richardson – How should we allocate the budget: Efficiency or fairness first

Session 0504
Brian O’Mahony – PARTNERS: Procurement of Affordable Replacement
Therapy- Network of European Relevant Stakeholders
Diane Kleinermans – New approaches to pricing & funding and implications for access: the BeNeLuxA Collaboration
Allen King – New Approaches to Funding in Rare Disease
Alexandre Natz – Enhancing patient access to care: new approaches to pricing and funding

Session 0505
Martin van der Graaff – Reaching the promised land means taking Jericho
Miriam Dalmas – Ensuring equitable access across geographical and political borders
Agnes Jaulent – Fast forwarding treatments for children with rare diseases

Theme 6:Global rare equity: Are we there yet?

Theme 6 Programme

Session 0601
Yann Le Cam – Leveraging global policies and global agencies to explicitly support rare diseases

Session 0602
Moeen AlSayed – Global Access to Timely Accurate Diagnosis and Optimised Care
Ruediger Gatermann – Global Access to Timely Accurate Diagnosis
and Optimized Care
Laura Arbour – Access to rare disease diagnosis in indigenous populations

Session 0603
Kym Boycott – Linking it Together: A Canadian Approach to Rare Diseases
Christopher Austin – The International Rare Diseases Research Consortium (IRDiRC)
Olivia Romero-Lux – Global access to timely and accurate DIAGNOSIS and optimised CARE
Sonja van Weely – E-Rare – ERA-Net for research programmes on rare diseases

Session 0604
Christina Waters – Building the RD Knowledge and Information Eco-system
Christina Waters – Rare Patient Journey and Rare Research and Development
Gabriela Pohla-Gubo – EB-CLINET
Michael Brudno – Connecting People and Databases Across Borders and Languages

Session 0605
Clarisa Marchetti –  Global Rare Equity: Argentina are we there yet?
Matt Bolz-Johnson – Equitable access for all persons with a rare disease
Getnet Tadele – H3Africa’s Genomics research and its implication on Rare Diseases
Ritu Jain – Equitable access for all persons with a rare disease
Ramaiah Muthyala – Collaborative Strategies to leave no one behind

Download programme at a glance

Programme Committee

Programme Committee Co-chairs

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Vinciane Pirard

Co-Chair Joint TF on orphan drugs and rare diseases – EFPIA-EuropaBio, Sanofi Genzyme, Netherlands

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Rainer Riedl

President, Pro Rare Austria, Austria

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Justina Januševičienė

Executive for the development of health care technologies and innovations, Lithuanian University of Health Sciences, Lithuania

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Programme Commitee members

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Ana Rath
Director, Orphanet, France

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Emmanuel Chantelot
Executive Director, Head of Government Relations and Policy Europe, EUCOPE & Celgene, Belgium

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Dr Miriam Dalmas

Consultant in Public Health Medicine, Ministry for Health, Malta

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Olaf Riess

Vice-President, ESHG and Head of Institute of Medical Genetics and Applied Genomics, University of Tübingen, Germany

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Violeta Stoyanova Beninska

Senior Clinical Assessor, Medicines Evaluation Board (Netherlands), Member COMP and Expert CNS WP at EMA, Netherlands

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Kate Bushby

Professor of Neuromuscular Genetics, Newcastle University, United Kingdom

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Valentina Bottarelli

Public Affairs Director & Head of European and International Advocacy, EURORDIS, Belgium

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Till Voigtländer

Chair ERN Board of Member States, Clinical Institute of Neurology, Medical University of Vienna, Austria

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Matt Bolz-Johnson

Healthcare and Research Director, EURORDIS, Germany

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Daria Julkowska

Executive Programme Manager, E-Rare, France

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François Houÿez

Treatment Information and Access Director, Health Policy Advisor, EURORDIS, France

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Jordi Llinares Garcia

Head of Orphan Medicines at the European Medicines Agency, EU

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Julian Isla

Data and Artificial Intelligence Resource Manager, Microsoft and Dravet Syndrome European Federation (DSEF), Spain

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Lene Jensen

CEO, Rare Diseases Denmark, Denmark

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Anne Pariser

Deputy Director of the Office of Rare Diseases Research (ORDR), NCATS, NIH, USA

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Virginie Hivert

Therapeutic Development Director, EURORDIS, France

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Luca Pani

Professor of Clinical Psychiatry, University of Miami, USA

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Theme leaders

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Daria Julkowska

Executive Programme Manager, E-Rare, France

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Lauren Roberts

National Co-ordinator, SWAN UK, United Kingdom

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François Houÿez

Treatment Information and Access Director,

Health Policy Advisor, EURORDIS, France

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Wim Goettsch

Executive Board Chair, EUnetHTA, Netherlands

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Jordi Llinares Garcia

Head of Orphan Medicines,

European Medicines Agency, EU

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Julian Isla

Data and Artificial Intelligence Resource Manager,

Microsoft and Dravet Syndrome European Federation (DSEF), Spain

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Justina Januševičienė

Executive for the development of health care technologies and innovations,

Lithuanian University of Health Sciences, Lithuania

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Lene Jensen

CEO, Rare Diseases Denmark, Denmark

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Ursula Holtgrewe

Head of Work & Equal Opportunities,

Zentrum für Soziale Innovation, Austria

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Michael Schlander

Professor of Health Economics at the

University of Heidelberg, Germany

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Ruediger Gatermann

Director Health Policy & External Affairs Europe,

CSL Behring, Germany

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Durhane Wong-Rieder

President and Chief Executive Officer,

Canadian Organization For Rare Disorders

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Dr Hugh Dawkins

Director, Office of Population Health Genomics

(OPHG), Australia

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Outreach Committee

[blockimg]Alba AncocheaCEO, FEDER, Spain[/blockimg][blockimg]Anja HelmSenior Manager of Relations with Patient Organisations, EURORDIS, France[/blockimg][blockimg]Gábor PoganyExecutive Vice President, Hungarian Federation of People with Rare and Congenital Diseases, Hungary[/blockimg][blockimg]Irina MiasnikovaExecutive Director, Russian Association for Rare Diseases, Russia[/blockimg][blockimg]Lene JensenCEO, Rare Diseases Denmark,  Denmark[/blockimg][blockimg]Mariana CamposMembership and Public Engagement Manager,Genetic Alliance UK, United Kingdom[/blockimg][blockimg]Martina MichalovaAssociate Producer and Office Manager, Czech Association, Czech Republic[/blockimg][blockimg]Olivier MenzelPresident and founder, BLACKSWAN Foundation, Switzerland[/blockimg][blockimg]Simona BellagambiVolunteer and project collaborator at UNIAMO FIMR onlus, Italy[/blockimg][blockimg]

Ulrike Holzer

Vice Chairwoman, Pro Rare Austria, Austria

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