Theme Descriptions

Theme 1: Game Changers in Research

Theme Leaders: 

Kate Bushby, Professor of Neuromuscular Genetics, Institute of Genetic Medicine, Newcastle University, UK

Hugh Dawkins, Director Office of Population Health Genomics, Department of Health Western Australia, Australia 

There has been a tremendous effort to promote and develop research in RD, enshrined in the aims of IRDiRC. With an underlying genetic cause for the majority of RD, a major game changer in research continues to be the development in technologies for sequencing and bioinformatics. The schema of moving from gene identification and diagnostics to therapy development is currently playing out in many rare diseases.

Within the sessions of the theme, we will address the move from research to diagnosis of these new technologies and consider the patient at the centre of new developments. We will develop discussion around the interplay between public and private funding streams for RD research, and consider some of the breakthroughs which have impacted on patient care, some of which have been enabled by innovative funding models. Finally we will revisit the end game of RD research in the delivery of new therapies to patients and how this can be enabled in a sustainable manner.


Theme 2: Game Changers in Diagnosis 

Theme Leaders: 

Alastair Kent, Director, Genetic Alliance UK, UK 

Milan Macek, Professor, Charles University, Czech Republic

Gert Matthijs, Head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics in Leuven, Belgium 

For patients and family members and carers, getting a diagnosis is fundamental to their understanding of the situation in which they find themselves. A diagnosis provides a route to answering the questions that rare diseases raise – What has happened to me/my child? What is going to happen? Is there anything that can be done? Will it happen again? Who can help me? – and many more like these. Without a diagnosis families, and the clinicians who support them, are groping in the dark, possibly missing out on interventions that might improve the situation for the affected patient and unable to bring in others potentially able to help. Without a diagnosis the possibilities for research and development are limited, and the development of therapies rarely gets off the ground, leaving potentially avoidable harms to occur, and without a diagnosis the provision of truly integrated, multi-disciplinary and inter-institutional care seems virtually impossible to achieve.

Getting a prompt, accurate diagnosis has, for many, been a struggle. Even today many children with rare diseases remain undiagnosed for months or years, and some never receive a diagnosis. This situation is, or ought to be, changing rapidly thanks to progress in research, but much remains to be done before we can arrive at a situation where we can confidently expect that every rare disease family will speedily find themselves in a situation where their doctor is able to say ” I know what this is, and I know what to do about it”.

In part, filling the gap between patient’s and family’s legitimate expectations and clinical realities will be possible through research, and the first two sessions in this theme are joint ones with theme 1′ “Game Changers in Research”. Thereafter the themes divide and pursue separate courses. Those who choose this theme will be able to participate in lively discussions with a wide range of experts ( on the platform and in the room) as we explore the scientific, clinical, societal, ethical and practical questions that will need to be addressed for patients and families to be able to appreciate the situation in which they find themselves and gain and retain a sense of control over their lives to the fullest extent possible.

The technological capabilities for diagnosis and other diagnostic tools are developing at a rapid pace, however, experience of the consequences of implementing these developments is still very low. This theme will allow you to participate in the debate with all stakeholders present: patients, health care professionals and regulators on the best ways of adopting these new developments.


Theme 3: Game Changers in Drug Development & Authorisation: Medicines & Adaptive Pathways

Theme Leaders: 

Jordi Llinares GarciaHead of Product Development Scientific Support, European Medicines Agency, EU 

Lesley Greene, Vice-Chair COMP, Vice-President CLIMB, EURORDIS Patient Representative, UK  

Ri de Ridder, Director General at RIZIV-INAMI, Belgium 

Ana Palma, Global HTA & Patient Access Lead, Sobi, Belgium 

Drug development, authorisation and access is no longer a linear path, but more of a cycle of evidence generation and review. Over the course of the past 15 years, since the EU Regulation on Orphan Medicinal Products and its regulatory framework have been created, opportunities for collaboration have been established at various different points on this circle. Some of these are already working well, with a solid body of experience behind them. Others are in earlier phases of testing and development. In order to “change the game” in rare disease therapy, development, authorisation and access, where are the moments in the circle that need our attention most? And is it possible that there are some areas where there is a “blockage”? Building on the collaborative approaches that have delivered the progress to date in the field of rare diseases, this Theme will aim to diagnose what needs our attention most and how we can smooth the path from research through to real treatments with real access for real patients.


Theme 4: Game Changers in Care Provision

Theme Leaders:

Till Voigtlander, Clinical Institute of Neurology, Medical University of Vienna, Austria 

Birthe Holm, EURORDIS Board of Directors, Rare Disease Denmark, Denmark 

Matt Johnson, Healthcare and Research Director, EURORDIS, Belgium

Living in the ‘connected generation’, its surprising to see that expertise in the rare disease field remains isolated. A wealth of knowledge and experience sit in pockets within Europe, locally accessible by only a scattering of people living with a rare disease. Is the game changer in healthcare going to be European Reference Networks, whose objective will be to connect the pockets of experts and highly specialised services, so that the whole rare disease community can benefit? As we approach the first call for European Reference Networks applications in Spring 2016, do we all share the same concept of what an European Reference Network is in reality? How will we breathe life into European Reference Networks, making these networks meet all our expectations?

Each of the sessions in this theme will explore our ambitions to refine a shared understanding of what the rare disease community really needs these networks to look like in reality. Drawing on expertise from across Europe, we will share case studies to show what the true potential is in connecting isolated experts and sharing knowledge and information. We will see how care will change in your local hospitals from the creation of European Reference Networks and mapping the evolution of practices and treatments through a common currency that enables experts to share knowledge and practices, driving improvements for all. Building greater interoperability that enables a system to talk to each other, communicate within countries and between countries. Exploring how access to improved quality of diagnosis, treatment and healthcare can be a reality for all, not a luxury for the few.


Theme 5: Game Changers in Social Policy 

Theme Leaders: 

Dorica Dan, Board of Officers, Board of Directors EURORDIS, President, Romanian Prader Willi Association, Romania 

Maria Montefusco, Project Manager at the Council of Nordic Cooperation on Disability, Nordic Centre for Welfare and Social Issues, Sweden

People living with a rare disease and their families face significant social and daily life challenges which affect their autonomy, their dignity and their fundamental human rights. Integrated care provision in coordination between medical, social and local support services, via multidisciplinary care pathways and innovative care solutions, is a crucial game changer to tackle the unmet social needs of people living with rare diseases. Taking as point of departure the recommendations of the European Commission Expert Group on Rare Diseases to Support the Integration of Rare Diseases into Social Services and Social Policy, this theme will look both into the current policy scenario as well as into innovative care solutions which are being experimented throughout Europe.


Theme 6: Game Changers in Global Society 

Theme Leaders:

Yann Le Cam, Chief Executive Officer, EURORDIS, France 

Durhane Wong Rieger, President and CEO, Canadian Organization for Rare Disorders, Canada 

Theme 6 drives home the message that rare diseases are truly global. By connecting globally, we can accelerate advances in knowledge, public awareness, and drug discovery and development but most important we can connect patients to professionals, the public, and each other. In the first session, we bring together experts with tips and tools on using different forms of social media to generate knowledge and do advocacy with equally powerful examples from the patient community.

Our second session brings leaders from various global enterprises involved in research, manufacturing, knowledge exchange, policy, and patient networking in a panel discussion on how greater synergy across all spheres can improve orphan drug development and approval.

The final session opens discussion on an issue with global impact: rare diseases as an international public health priority. What can we learn from leading public health experts and successful international associations?