Today, around 7000 rare diseases affect more that 300 million people worldwide, yet the majority of rare and ultra rare diseases still lack a therapeutic option. Patients endure a long journey to receive a diagnosis, which typically takes four years for known diseases; however, 50% of patients never obtain a definitive molecular diagnosis. Moreover, 52% of patients and caregivers report that their condition has a severe impact on their daily lives.

To address these important issues, the European Rare Diseases Research Alliance (ERDERA) has been set up to build on the advancements made by former EUfunded projects such as SOLVE-RD, ERICA and the European Joint Programme for Rare Diseases (EJP RD), the previous partnership which has run for the past 5 years.

ERDERA will continue developing a robust and comprehensive data and expertise infrastructure and innovative clinical research services -with a focus on advanced therapies-, funding new research projects, providing training and expediting.

ERDERA’s ambition

ERDERA has the ambition to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in RD research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. It will support the EU commitment to UN 2030 Agenda’s Sustainable Development Goals: (i) Good health & wellbeing (SDG3), (i) industries, innovation and infrastructure (SDG9), and (in) Reduced inequalities (SDG10) as well as the EU political priorities (a Europe fit for the digital age, an economy that works for people, a stronger Europe in the world, Promoting our European way of life and democracy).

ERDERA’s vision

To leave no one behind, ERDERA will deliver a RD multi-stakeholder ecosystem by supporting robust patient need-led research, developing new treatments and diagnostic pathways, by using the power of health and research data and spearheading the digital transformational change in RD research and innovation (R&l).
Finally, ERDERA will structure the European Research Area on RD by supporting the coordination and alignment of national and regional research strategies, including the establishment of public-private collaborations, through research activities all along the R&l value chain, ensuring that the journey from knowledge to patient impact is expedited, thereby optimizing EU innovation potential in RD.
This vision will be enabled by a tripartite mission to be accomplished by the end of ERDERA.

ERDERA’s missions

– Bring and share supporting R&l knowledge, resources and services from across Europe under one roof so that every RD research project would benefit from cross-disciplinary expertise, goal-oriented study planning and efficient execution.
– Enable every consenting patient living with a rare disease to be findable and enrolled in a suitable clinical study, by boosting generation and sharing of FAIR-compliant, regulatory-quality data from diversity of sources, with the ultimate goal to fasten advances in prevention, diagnosis, disease knowledge and treatment.
– Make Europe a global leader on rare disease research through a significant increase in investment to spur innovation, by aligning the regional, national and European research and innovation priorities, leading to job creation and improving EU competitiveness in R&l.

ITHACA’s involvement into ERDERA

ITHACA is involved into ERDERA via the participation of its project managers, HCP members and ePAGs into different WorkPackages, in particular the following:

WP6 – Diagnostic data availability ;

WP7 – Genome re-analysis research pipeline

WP8 – Innovation to shorten time to RD diagnosis;

WP9 – Real World Data;

WP10 – Clinical Outcome Assessment

WP12 – N-of-few Approach

WP20 – Education and Training on RD Research

WP23 – NMGs promotion and national alignment