Presentations from the EURORDIS Membership Meeting 2021

• Agenda

• Speakers’ bios

• List of participants

Workshop 1: EURORDIS 101: What can EURORDIS do for you?

• EURORDIS: A community of people living with a rare disease, Yann Le Cam, Chief Executive Officer, EURORDIS
• Get the best out of EURORDIS’ resources, Stanislav Ostapenko, Communications Manager & Davor Duboka, Web Technology Manager, EURORDIS

How can you engage with EURORDIS?

• Learn: Open Academy: EURORDIS’ training programme, Raquel Castro, Open Academy Director, EURORDIS & Ilaria Galetti, FESCA, Italy
• Represent: European Patient Advocacy Groups (ePAGs), Ines Hernando, ERN and Healthcare Director, EURORDIS & Anne-Laure Aslanian, Arian Weinman and Lenja Wiehe, ePAG Engagement Managers, EURORDIS
• Therapeutic Action Group (TAG), Virginie Hivert,  Therapeutic Development Director,  EURORDIS & TAG members
• Participate: Rare Disease Day: Simona Bellagambi, UNIAMO and EURORDIS, Italy

Additional resources:

• European Patient Advocacy Groups (ePAGs) – Introductory video on ERNs

Workshop 2: Working in a virtual world: Online Conferences and Fundraisers

• How to organise engaging meetings and conferences online: practical tips, platforms, and budgets, Sharon Ashton, Events Director, EURORDIS
• Holding a successful fundraising sports event online, Elvira Martinez, FEDER, Spain
• Creating an online auction, Saskia de Vries, ACHSE, Germany
• Organising an online conference for cystinosis, Claudia Sproedt, Cystinosis Network Europe
• Introduction to the Digital School, Marta Campabadal, RareConnect Manager, EURORDIS
• Engaging with the media and celebrities, Catherine Fowler, Aortic Dissection Charitable Trust, UK
• Launching projects in a virtual world, Dorica Dan, RONARD and EURORDIS, Romania

Additional resources:

• Online Events Top Tips
• ECRD 2020 learning and recommendations
• Speaker guidelines
• Budget template
• Session script
• Glossary: Suppliers of digital tools

Networking session/Soap box

• Addressing the challenges of diagnosis for a rare disease: How IPWSO is supporting diagnosis for people with Prader-Willi syndrome, Marguerite Hughes and Agnes Hoctor, IPWSO
• International patient registry on the effects of COVID-19 in people with rare diseases, Garrahan Hospital (Buenos Aires) and Sant Joan de Déu Barcelona Children’s Hospital
• Common challenges in uncommon conditions, Rosanne M. Smits and Chris Verhaak (Amalia Childrens Hospital, Radboudumc, Nijmegen, Netherlands)

Plenary Session: Shaping the next 10 years of rare disease policies: Europe’s Action Plan for Rare Diseases

• Welcome and Opening remarks: We are the 30 million people asking for Europe’s Action Plan for Rare Diseases, Terkel Andersen, President and Yann Le Cam, Chief Executive Officer, EURORDIS

Why do we need to advocate together for a new policy framework for rare diseases?

• The young patient’s perspective: Challenges for the familial hypercholesterolemia community (Global Call for Action), Athanasios Pallidis, FH Europe, Greece
• Rare 2030 Recommendations: The roadmap for the next decade, Anna Kole, Public Health Policy Director,  EURORDIS
• State of the art of rare diseases across Europe: National plans, Vicki Hedley, Newcastle University, UK
• Advocating for change at national level: Considering Rare 2030 in the Italian national plan, Annalisa Scopinaro, UNIAMO, Italy & Stefano Benvenuti, Fondazione Telethon, Italy

Advocating for change at European:

• How can we work together for change: Grassroots advocacy for a new policy framework, Jenny Steele, Campaign Manager, EURORDIS

Additional resources:

• Rare 2030 Full Recommendations or Executive Summary
• The Rare 2030 Knowledge Base Summaries

Workshop 3: Moving forward: The Rare 2030 Campaign

• Rare 2030 Campaign for a new policy framework: Why we need your support and how this will help you! Anna Kole, Public Health Policy Director & Jenny Steele, Campaign Manager EURORDIS
• How to advocate with your MP/MEPs – Tell a story, Kostas Aligiannis, Public Affairs Manager, EURORDIS, & Dominique Sturz, Pro Rare Austria
• International policies for rare diseases: UN Resolution on addressing the challenges of persons living with Rare Diseases, Clara Hervas, Public Affairs Manager, EURORDIS

Additional resources:

• UHC Advocacy and Rare Disease
• Rare 2030 Executive Summary

Workshop 4: Moving forward: Advocating for a specific issue

• Using EURORDIS’ position papers and Rare 2030 recommendations to advocate for diagnosis, treatment and care, Valentina Bottarelli, Public Affairs Director & Head of European and International Advocacy, EURORDIS

Additional resources:

• Key principles for Newborn Screening
• RARE IMPACT EU Report: “Challenges and solutions for improving patient access to advanced therapies medicinal products at the European Union level”
• UNIAMO and PO's Position Paper

Workshop 4 Breakout 1 – Access to potentially curative therapies

• Rare 2030 recommendation 8 – Available, Accessible and Affordable Treatments, Simone Boselli, Public Affairs Director, EURORDIS

Workshop 4 Breakout 2 – Newborn Screening & Innovative diagnosis

• Rare 2030 Recommendation 2: Earlier, Faster, more accurate diagnosis, Antoni Montserrat, ALAN, Luxembourg
• NBS in Healthcare (Next Generation Sequencing for NBS), Nick Meade, Genetic Alliance UK
• Presentation of Key Principles for Newborn Screening and roadmap to implementation, Gulcin Gumus, Research & Policy Project Manager, EURORDIS
• Case study: Newborn Screening for SMA, Marie Christine Ouillade, European Alliance of NBS for SMA

Additional resources:

• Key principles for newborn screening: A EURORDIS position paper (January 2021)
• European Alliance for Newborn Screening in SMA, Spinal muscular atrophy: Screen at birth, save lives (Whitepaper version 1, 26 March 2021)

Workshop 4 Breakout 3 – Taking action on ERNs at national and European level

• Taking action at national level, Ines Hernando, ERN and Healthcare Director, EURORDIS
• Best Practices. Taking action at national level: Connecting patient organizations to Centres of Expertise by a legal role in the designation process. Cor Oosterwljilk, Director National Patient Alliance for Rare and Genetic Diseases (VSOP), The Netherlands
• Case Study – Taking action at European level, Improving access to care and treatment for Huntington’s Disease patients and families, Astri Arnesen, European Huntington Association, Norway

Additional resources:

• Recommendations to achieve a mature ERN system in 2030 
• Best practice. Taking action at national level: Connecting patient organisations to Centres of Expertise by means of a legal role in the designation process (documents below in Dutch but translatable into English using your browser):
• Letter from the minister of health to the parliament (including several other actions in the field of rare diseases)
• Related publication in the ‘Staatscourant’
• Related publication on the ministry of health’s website
• Instructions (VSOP website) for patient organisations on how to assess the CoEs (and several other related webpages).
• Best practice. Taking action at European Level:
• Improving access to care and treatment for Huntington’s Disease patients and families