Programme at a glance

Download programme at a glance


Theme descriptions

Theme 1: Structuring the Research & Diagnosis Landscape

Theme leaders:Daria Julkowska, E-Rare, France and Lauren Roberts, SWAN Europe, UK

Session 1: Transformations in diagnostics: How research is re-shaping the diagnosis landscape.
Session 2: Research: from an idea to the real world.
Session 3: Innovative funding partnerships: Challenges and opportunities.
Session 4: Patient involvement: Is it enough to be an ‘expert by experience’?
Session 5: Genome editing: Are we heading towards a world without rare diseases?

In the last few years, the research and diagnosis landscape has changed significantly in the field of rare diseases. Integration of new technologies in healthcare, and increased connection between research and care has opened up new possibilities for faster diagnosis and treatment. Acknowledging the patient as a key actor in their own health and putting them at the centre is strongly contributing to these tangible benefits. Encouraged by collaborative achievements of rare diseases stakeholders, the IRDiRC has published new, more ambitious goals and Europe is at the point of launching an integrative joint programming rare diseases initiative. But are we yet close to a fully collaborative and effective ecosystem that can provide all rare disease patients a diagnosis within a year?

The “STRUCTURING THE RESEARCH AND DIAGNOSTIC LANDSCAPE” theme will explore how we can exploit current achievements in genomics, how to prepare for new developments on the horizon and how to ensure no patients are left behind.

Starting by exploring how recent advances in research have transformed diagnostic pathways, we will also examine the potential challenges associated with new technology enabling self diagnosis and consider how we support those patients for who, despite these all innovations, their condition is likely to remain undiagnosed.

Assuming cooperation between patients, clinicians, researchers and sponsors to be the bedrock upon which successful research occurs, the next sessions will investigate what is required to aid this collaboration. Sessions two and three will explore recent, innovative schemes of co-design and funding, how to carry out research that profits all stakeholders and provide examples of how to attract investment. In session four we will challenge the idea of whether it is enough for a patient to simply be ‘an expert by experience’ and consider what skills and experience is required for them to truly be respected, equal partners.

In the closing session we expect lively debate as we invite ethicists, researchers and patients to scrutinize the impact of recent developments in gene editing – are we heading towards a world without rare diseases?

Theme 2: Breakthrough medicines on the horizon

Theme leaders:François Houÿez, EURORDIS, France; Wim Goettsch, EUNetHTA, Netherlands and Jordi Linares Garcia, Head of Scientific and Regulatory Management, EMA

Over the past two years, regulators and health technology assessors (HTA) have engaged in an unprecedented exchange of information: an agreement to create a one-stop-shop for parallel EMA/HTA scientific advice and the sharing of early reports from regulators during the evaluation phase of pharmaceuticals so that HTA can start before marketing authorisation. The EMA and HTA work together to scan the horizon and to see which medicines are likely to fit their respective procedures. This is preparing for future European cooperation on HTA, as a permanent scientific secretariat to host European HTA activities is needed.

Theme 2 will cover important initiatives such as Priority Medicines at the EMA (PRIME); the current cooperation on HTA (EUnetHTA joint action 3) – the EMA-EUnetHTA three-year work plan which was announced in November 2017; plans for the future of HTA, and will describe where we are in the development of orphan medicinal products in 2018.

Lastly, it will explain the new roles of patients and their representatives when working with regulators, HTA and/or industry.

Theme 3: The Digital Patient

Theme leader: Julian Isla, Microsoft, Spain and Justina Januševičienė, Lithuanian University of Health Sciences, Lithuania

While other industries are fully immersed in the digital era, the health industry is struggling to undergo a real digital transformation. The foundations of health science date back centuries and the transition to the digital world is complex. The obstacles to create digital assets and relationships in the field of health range from unbalanced physician-patient relationships to clinical institutions focused on transactions and non-continuous care. Patients with rare diseases are suffering from this situation even more than other chronic patients: the complexity of their conditions, the low number of patients and the scarcity of effective treatments are big problems but also are great opportunities for a new medicine based on the P4 pillars (predictive, preventive, personalised and participatory). We will explore how technology can help patients with rare diseases, how the regulatory world is evolving, the initiatives in Europe to embrace this digital transformation and real examples from patient organisations already starting this journey. New technology will create fabulous opportunities but also new risks, as information will be more accessible to hackers and medical systems will be more exposed to cyberattacks. Information and awareness are elements crucial to understand in order to mitigate the risks while we are evolving into a new era of medicine.

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

Theme leaders:Lene Jensen, Rare Diseases Denmark and Ursula Holtgrewe, Zentrum für Soziale Innovation, Austria

Rare diseases pose serious health, social and everyday challenges, which are often highly debilitating, and significantly affect the autonomy and the fundamental human rights of people living with a rare disease and their carers. However, people living with rare diseases and their carers should be recognised and esteemed as persons, not as diagnoses. They should have the possibility of living a life with fulfilling personal relationships,of being able to contribute meaningfully to the lives of others and to society. Freedom to decide on their own lives, autonomy, security and dignity are important factors of what we call “quality of life”.

All rare disease stakeholders are working to improve the quality of life of all rare people. Nevertheless, health and social systems was well as the different spheres of access to care, treatment and support to inclusion and participation in society do not always successfully address their complex needs in ways that create actual improvements. How can we continue to build win-win collaborative strategies to advance this mission?

This theme revisits the concept of quality of life and explores the ways in which it can contribute to decision making and to shaping the provision of treatments and care. Discussions will also unveil the invisible burden of rare diseases and explore case studies of innovative services that bridge the existing gaps to effectively and sustainably achieving integrated care.

Lastly, the theme will venture into thinking of how care may look like in 30 years and how all stakeholders can prepare to develop the next best practices, building on the advances and challenges of tomorrow rather than those of today.

Theme 5: Economical Perspectives in Rare Diseases

Theme leaders: Michael Schlander – Professor of Health Economics, University of Heidelberg, Germany and Ruediger Gatermann – Director, Healthcare Policy and External Affairs Europe, CSL Behring, Germany

The theme will aim to look at economical aspects in rare diseases from different stakeholder perspectives, evaluate existing collaborative approaches and discuss options to further develop an environment conducive to innovation and to faster access to patients care and cure.

The sessions in this theme will explore our ambitions to refine a shared understanding on how to improve access to rare disease therapies and how to ensure a sustainable orphan drug business model for all stakeholders involved.

We will share findings on economic and financial impact of rare diseases on healthcare systems and societies, including testimonials/case studies from patients.

The theme will look both into the impact of the current policies on access to rare disease therapies as well as into innovative concepts and collaborative approaches which are being experimented throughout Europe both in view of value recognition, rewarding and funding.

A look into the future will complete the theme to explore consensual ideas on what is needed to further develop the rare diseases ecosystem and how to ensure sustainable access to rare disease care in 2030.

Theme 6: Global Rare Equity: Are we there yet?

Theme leaders: Durhane Wong-Rieger, Canadian Organisation for Rare Disorders, Chair of Rare Diseases International, Founder of the Asia Pacific RD Alliance (APARDO), Canada and Hugh Dawkins, Office of Population Health Genomics, West Australia and Vice Chair of IRDiRC, Australia.

It’s time to commit to global equity for rare diseases.   When rare diseases are neglected anywhere, people living with a rare disease are harmed everywhere.  

People with rare diseases are connected globally by their genes and their challenges; they should also be connected by their hope and opportunities.  Our vision is a world where all people living with rare diseases receive equitable treatment and support and all advances in rare diseases benefit all those affected, regardless of where they live.

This theme is set up as five inter-related workshop sessions that explore how to achieve global equity for rare diseases from top-down and from bottom-up levels, from policy and research to products and practical solutions.  

Each session will be facilitated by an animateur with several “thought leaders” who will set the stage for total audience participation.

Programme Committee

Programme Committee Co-chairs

Vinciane Pirard

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

Rainer Riedl

President, Pro Rare Austria, Austria

Justina Januševičienė

Executive for the development of health care technologies and innovations, Lithuanian University of Health Sciences, Former Director, Healthcare resources and innovation management department, Lithuania










Programme Commitee members

Ana Rath
Director, Orphanet, France

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

Dr Miriam Dalmas

Consultant in Public Health Medicine, Ministry for Health, Malta

Olaf Riess

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

Violeta Stoyanova Beninska

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

Kate Bushby

Professor of Neuromuscular Genetics, Newcastle University, United Kingdom

Valentina Bottarelli

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

Till Voigtländer

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

Matt Bolz-Johnson

Healthcare and Research Director, EURORDIS, Germany

Daria Julkowska

Executive Programme Manager, E-Rare, France

François Houÿez

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

Jordi Llinares Garcia

Head of Orphan Medicines at the European Medicines Agency, EU

Julian Isla

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

Lene Jensen

CEO, Rare Diseases Denmark, Denmark

Anne Pariser

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

Virginie Hivert

Therapeutic Development Director, EURORDIS, France

Theme leaders

Daria Julkowska

Executive Programme Manager, E-Rare, France

Lauren Roberts

National Co-ordinator, SWAN UK, United Kingdom

François Houÿez

Treatment Information and Access Director,

Health Policy Advisor, EURORDIS, France

Wim Goettsch

Executive Board Chair, EUnetHTA, Netherlands

Jordi Llinares Garcia

Head of Orphan Medicines,

European Medicines Agency, EU

Julian Isla

Data and Artificial Intelligence Resource Manager,

Microsoft and Dravet Syndrome European Federation (DSEF), Spain

Justina Januševičienė

Executive for the development of health care technologies and innovations,

Lithuanian University of Health Sciences, Lithuania

Lene Jensen

CEO, Rare Diseases Denmark, Denmark

Ursula Holtgrewe

Head of Work & Equal Opportunities,

Zentrum für Soziale Innovation, Austria

Michael Schlander

Professor of Health Economics at the

University of Heidelberg, Germany

Ruediger Gatermann

Director Health Policy & External Affairs Europe,

CSL Behring, Germany

Durhane Wong-Rieder

President and Chief Executive Officer,

Canadian Organization For Rare Disorders

Dr Hugh Dawkins

Director, Office of Population Health Genomics

(OPHG), Australia

Outreach Committee
Alba AncocheaCEO, FEDER, Spain
Anja HelmSenior Manager of Relations with Patient Organisations, EURORDIS, France

Gábor Pogany

Executive Vice President, Hungarian Federation of People with Rare and Congenital Diseases, Hungary

Irina Miasnikova

Executive Director, Russian Association for Rare Diseases, Russia

Lene Jensen

CEO, Rare Diseases Denmark,  Denmark

Mariana Campos

Membership and Public Engagement Manager,

Genetic Alliance UK, United Kingdom

Martina Michalova

Associate Producer and Office Manager, Czech Association, Czech Republic

Olivier Menzel

President and founder, BLACKSWAN Foundation, Switzerland

Simona Bellagambi

Volunteer and project collaborator at UNIAMO FIMR onlus, Italy

Ulrike Holzer

Vice Chairwoman, Pro Rare Austria, Austria