Click here for the Programme at a glance
08.30-17.00 Registration open
09.00-10.30 Choose from 6 parallel sessions (Click bars below)
10.30-11.00 Coffee break, posters and exhibition
11.00-12.30 Choose from 6 parallel sessions (Click bars below)
12.30-14.00 Lunch, posters and exhibition
12.30-14.00 eHealth for Clinicians lunch session
14.00 – 15.30 Choose from 6 parallel sessions (Click bars below)
15.45-17.00 Closing Plenary
Session Chair: Avril Daly, Vice-President EURORDIS, Chair,
Genetic and Rare Disorders Organisation (GRDO) Ireland, CEO,
Retina International, Ireland
Closing remarks (video), George Freeman, Minister for Life Sciences, UK
My learnings and takeaways from this conference, Tom Koukoulis, UK Thalassaemia Society (UKTS), UK
Key take-home messages & panel discussion:
Theme 1: Hugh Dawkins, Director, Office of Population Health
Genomics, Department of Health Western Australia, Australia
Theme 2: Alastair Kent, Director, Genetic Alliance UK, UK
Theme 3: Ri de Ridder, Director General, RIZIV-INAMI, Belgium, Ana
Palma, Global HTA & Patient Access Lead, Sobi, Belgium and Bruno
Sepodes, Chair COMP, Professor, University of Lisbon, Portugal
Theme 4: Matt Johnson, Healthcare and Research Director,
EURORDIS, Belgium and Till Voigtländer, Clinical Institute of
Neurology, Medical University of Vienna, Austria
Theme 5: Dorica Dan, Board of Officers, Board of Directors
EURORDIS, President, Romanian Prader Willi Association, Romania
Theme 6: Durhane Wong Rieger, President, CORD, Canada
Closing remarks: Avril Daly, Vice-President EURORDIS, Chair,
Genetic and Rare Disorders Organisation (GRDO) Ireland, CEO,
Retina International, Ireland
17.00-17.30 Informal farewell coffee break
Please click on the bars below to see a detailed agenda per theme.
Paul Lasko, Scientific Director, CIHR Institute of Genetics, Canada, Former Chair IRDiRCThere have been several large EU and international initiatives in RD research at the political and public funding level. With discussion led by the IRDiRC Chair and chairs of the scientific committees representatives from the EU, NIH and IMI will present their vision for sustainable RD research funding streams, including the collaborative infrastructures which support RD research and development. The session aims to demonstrate the game changing initiatives which have driven RD research and model the potential sustainability of these developments.
Serge Braun, Chief Scientific Officer, AFM, FranceThere have been some major developments which have brought or are aiming to bring innovative therapies, including in the advanced medicinal products domain, to patients. We will hear about the processes needed to bring stem cell therapy to the clinic, and how an innovative company led by a parent is trying to develop a gene therapy product to the clinic for Duchenne muscular dystrophy. Alongside patient driven initiatives, technology is a driver to some game changing programmes and needs to be considered as a facilitator and driver for change. Panel participants bring a wealth of experience in innovative funding mechanisms which can catalyse game changing research. The session will show how game changing ideas can come to fruition especially when innovative partnerships can be developed to support and partner the research.
Peter A Mossey, Professor of Craniofacial Development & Director WHO CC, Dundee University Dental School, ScotlandPublic and private funding has significantly supported research and development in RD and therapies are progressing along the clinical pipeline. With this comes a new responsibility and imperative for supportive research, especially where it comes to understanding the health economic perspective for the provision of therapies for RD. The pros and cons of specifically addressing RD as a special case for health economic assessment will be examined, in the context of the sustainability and future of funding for RD research. The session will dissect the rhetoric and realities around the IRDiRC goals of 200 new therapies for RD by 2020 and the related funding streams if RD drugs are seen as unaffordable and set the stage for potential solutions. Structured Debate: Panellists:
Domenica Taruscio, Director Istituto Superiore di Sanità (ISS), Italy and Kay Parkinson, Founder, Alstrom Europe, UKShould we just sequence everybody's whole genome at birth, and give them the information so they can make decisions about not only their own health and the diseases they will develop, but also as to whether to have children and if so,with whom? This will,be an interactive discussion with inputs from patients, clinical geneticists, lab scientists, screening professionals and health service planners (on the podium and in the room) as we consider the potential impact of greatly extended screening programmes.
Hugh Dawkins, Director, Office of Population Health Genomics, Health Department of Western Australia, Vice-Chair IRDiRC, AustraliaIRDiRC set out the goal of a diagnostic for every rare disease by 2020. How far have we come in achieving this aspiration, and what will this mean in practice for clinicians and patients? In health care systems based on the concept of equity will,there be a group,left behind by uneven scientific progress, and differences in resources.What does this mean for patients and families unable to be helped because of these variations, and how could we mitigate this though concerted scientific, national and global action?
Alastair Kent, Director, Genetic Alliance UK, UKThis session will give patients, family members and others the opportunity to ask a panel of experts the questions that really matter. We have the potential to generate volumes of data unimaginable only a few years ago. What does this mean? Why can't doctors tell us everything that genome sequencing reveals? How can I find out about incidental findings? Why are so many variations in my genome not understood? What can be done to reduce unfair genetic discrimination - between disease or between countries? Who owns my genome? What about my privacy? These may be some of the issues explored in this session. Panel Discussion:
Thorsten Vetter, Scientific Administrator, EMA, EUExperiences of parallel EMA-HTA Scientific Advice have been very positive, but actual and practical impact on access and availability to patients – particularly for rare disease treatments and orphan medicinal products – remains unclear. How can we build on where we are now, to broaden the impact and accelerate practical benefits in terms of access to treatments? What are the next steps to make parallel scientific advice a real game-changer for orphan medicinal product development and access across the EU? Moving along The Walk to the next “moment”, this session will focus on showcasing those HTA engagement initiatives from which we can learn the most; and aims at discussing how these various scattered experiences and pilots can be moved into real life, in a way that will create meaningful outcomes for patients.
Ri de Ridder, Director General, RIZIV-INAMI, Belgium & Ana Palma, Global HTA & Country Patient Access Lead BeNeLux, Sobi, BelgiumThis session will focus on the last “moment” of The Walk – the payers. With the EURORDIS-EPF “Call to Payers” as background, the session aims to discuss possible approaches to achieve what the patients are asking for, including the viability and potential of collaborative approaches between Member States and healthcare systems as a way to address potential access and reimbursement issues. Additionally, a perceived game-changer that could allow further developments in bringing payers to the table – including trust and transparency – will be highlighted, with the objective of further understanding if and how these can be addressed. The lessons learned from the MoCA (Mechanism of Coordinated Access to Orphan Medicinal Products) and other collaborative experiences to date will be shared with the aim of discussing how these learnings could potentially be brought into a more widely used or mainstream approach – and whether these dialogues could become common practice as a possible tool to support timely, effective and sustainable access to effective treatments.
Yann Le Cam, Chief Executive Officer, EURORDIS, France and Peter O'Donnell, Associate Editor, Politico, BelgiumThe last session aims to bring together the different elements along the pathway from ideas to patients. The objective is to zoom back out of the different “moments” of The Walk, connecting all these different dots into an agreed way forward involving all the different stakeholders – a call for action: “So what are you and we going to do about all of this?” Stakeholders with responsibilities at different stages of the walk will be asked to summarise what elements are critical from their perspective, what their expectations are of the other stakeholders and what steps they can identify in order to improve the development and availability processes for orphan medicinal products and rare disease therapies. The objective is to leave with a clear plan of action, which will lay the work programme for the next 2 years and beyond.
Edmund Jessop, Specialised services team, NHS England, UKAt the heart of European Reference Networks is a culture of learning, where clinicians share knowledge and practice, celebrating the variation in practice and only standardising diagnosis, care and treatment where there is a clear and proven improvement in evidence and ultimately outcomes for patients. Health outcomes are the common currency used by experts to drive forward improvements of care, but is the road ahead filled with successes or disappointments, what outcomes really matter for patients and how do we measure the health outcomes of untreatable diseases? This session should provide a clear view on the value and critical role health outcomes play in shaping the evolution of care and practice.
Henrique Martins, Project Coordinator, EXPAND project, PortugalLiving 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 interoperability a state of mind, that will spark into life under European Reference Networks as clinicians across Europe collaborate under these new networks? Are the building blocks in place for the first ERNs to enable fast and safer ways to share data, communicate about care and bring expertise locally to the patients across Europe? This session aims to share the seeds of success in sharing expertise and data using eHealth and seeing how they can grow to meet the needs of the rare disease community.
Till Voigtlander, Clinical Institute of Neurology, Medical University of Vienna, AustriaWill ERNs be the game changer in healthcare? From concept to reality, how will ERNs live up to our expectations? Will they enable improved access to high quality healthcare? Will these networks see the free movement of expertise, knowledge and patients? This session will show how expertise has travelled to the patient, how patients have travelled to the expertise and where the expert and patient travel virtually. How Member States have worked together to enable care to be provided in other countries to meet the needs of their population.
Martin Godfrey, Managing Director, Health & Wellness, 3 MONKEYS/ZENO, UKThe use of internet technologies for the purposes of advocacy and patient engagement continues to mature. This session provides an opportunity to see first-hand projects which showcase the innovative use of social media in combination with advanced computational technologies which are impacting the rare disease community. Whether it is the design of new care protocols, the use of big-data in the detection of side-effects or patient-driven campaigns for access to medicines the evolution and use of the internet continues to be a catalyst for ground-breaking change.
Durhane Wong Rieger, President, CORD, CanadaWe are at a new place, coordinating and building strength. How is this being transformed into making a difference at global, national and local levels? What are we contributing to? The discussion will be led by key players forming the rare disease eco-system today. The panellists will present the patient, research and industry perspectives and explore the synergies between all stakeholders towards the common goal of more research, more treatments and better quality of life for people living with rare diseases. Panel Discussion
Kawaldip Sehmi, Chief Executive Officer, IAPO (International Alliance of Patients' Organisations), UKHow to bring the national debate into the international policy agenda? How to make actions on both levels mutually reinforcing? The session will analyse the value added of advocating for rare diseases at the international and regional level. The panellists will present some of the tools that are being used to advocate for rare diseases as a public health priority to international institutions. Successful programs led by two experienced disease-specific federations will be showcased to demonstrate that it is possible to implement rare disease policies in developing countries.
Magda Chlebus, Director of Science policy, EFPIA, Belgium
Mark Krueger, President, MK&A, USA
Valentina Bottarelli, Public Affairs Director, Head of European & International Advocacy, Belgium
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