36th Workshop of the EURORDIS Round Table of Companies (ERTC)
Overcoming Barriers to Rare Disease Diagnosis
Tuesday, 10th October 2023, Recinte Modernista, Barcelona
09:30-17:00 CET
Agenda
Pre-reading materials
- Recommendations from the rare 2030 foresight study: the future of rare diseases starts today
- Time to act – Improving rare disease diagnosis and solving the unsolved rare disease through collaboration in Europe
- Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients
- Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
- Newborn Screening by Genomic Sequencing: Opportunities and Challenges
Key objective and scope
This workshop aims to reflect on the challenges associated with diagnosing rare diseases and to explore practical solutions to improve the path to diagnosis. By identifying bottlenecks in the diagnostic pipeline and bringing together patients, policy makers, developers, diagnostic solution providers and researchers, the workshop seeks to foster collaboration and facilitate knowledge exchange for the benefit of people living with a rare disease in Europe and beyond.
Evidence collected from thousands of people living with a rare disease in the context of the EURORDIS Rare Barometer latest surveys on Diagnosis and Newborn Screening will be used as a backdrop to the discussions. This will set the scene to help workshop participants learn from patients and their carers about their journey to diagnosis and their perspectives on the factors influencing the process of obtaining an accurate and timely diagnosis.
Latest insights into European infrastructure and technological advances contributing to streamlining the diagnostic pathway will then be presented. Participants will have the opportunity to discuss the potential of these solutions to facilitate patient access to diagnosis. Another key focus of the workshop will be to reflect on the potential of clinical diagnostic networks in addressing the devastating impact of undiagnosed conditions on the lives of patients and their families, and to discuss collaboration opportunities between researchers and developers to advance diagnostic research.
The workshop will also investigate the potential of personalised treatments based on genomic data and examine the European political landscape surrounding the expansion of newborn screening, highlighting emerging technologies and best practices through pilot studies. Patient data being paramount in our collective work, the need for clear guidelines for patients on how and where to share data will also be emphasised.
All registered participants are also invited to attend a Welcome Dinner the evening before the workshop.
Objectives
- Understand the goals set by EURORDIS and IRDiRC to improve and shorten the path to rare disease diagnosis;
- Hear from people living with a rare disease about diagnosis delays and the challenges in the healthcare system they are still facing;
- Understand what clinical diagnostic networks are and explore the potential of a close collaboration between industry and research in contributing to advancing diagnostic research and progress on undiagnosed cases;
- Recognise the need for clear guidelines for patients on how, where, and why to share data, emphasising the importance of data shareability;
- Investigate the potential of personalised treatments based on genomic data;
- Examine the political landscape surrounding the expansion of newborn screening programmes;
- Foster discussions and strategies to promote a balanced approach between treatment-oriented pipelines and diagnostic pipelines;
- Network, build connections and share perspectives and experiences.
Registration
ERTC members will receive a direct email from the EURORDIS Corporate Relations team with a link to register for the workshop and access allocated passes.
To see the full list of ERTC members, please click here.
If you are not an ERTC member or you have not received a direct email and wish to attend the workshop as an industry representative, please contact Céline Schwob at celine.schwob@eurordis.org or Jo Marshall at jo.marshall@eurordis.org.
For other attendees such as patient representatives, policy makers or healthcare professionals, please contact Martina Bergna at martina.bergna@eurordis.org
Venue
Recinte Modernista de Sant Pau
Carrer de St. Antoni Maria Claret, 167
08025
Barcelona
Dinner Venue
There will be a Welcome dinner on Monday, 9th October starting from 19:15 CET for all registered participants of the workshop.
Alba Granados
C/ d’Enric Granados, 34
08008 Barcelona
Spain
Dress code: smart casual.
Accommodation
Please make your own hotel reservations and travel arrangements.
Please refer to our list of hotels close to the workshop venue if needed.
Questions
Please send any questions concerning registration to Martina Bergna at: martina.bergna@eurordis.org
We look forward to welcoming you to the 36th Workshop of the EURORDIS Round Table of Companies.