Standing on the shoulders of EJP RD and previous partnerships

The rare diseases landscape has dramatically changed over the past decade in Europe, thanks largely to the work done by the European Joint Programme for Rare Diseases (EJPRD) and previous partnerships in advancing basic research and clinical applications, fostering patient engagement and enabling important international collaborations.

More specifically, EJP RD mobilised 101 million euros (55 million came from the EU) to fund collaborative research projects. The partnership has also developed a cutting-edge virtual platform that now provides coordinated access to rare disease data, tools and resources. To build the capacity of all stakeholders involved in rare disease research, EJP RD has provided training, mentoring and clinical studies support services, as well as resources such as the Innovation Management Toolbox or the Rare Diseases Clinical Trials Toolbox . Finally, the partnership has proved crucial for aligning international research policy agendas with national strategies.

However, work is far from done. There are still considerable gaps that affect millions of people living with a rare disease and, indirectly their families, carers and society as a whole.

These are the staggering figures today:

  • There are about 7000 rare diseases affecting over 300 million people worldwide

  • a vast majority of rare diseases lack a therapeutic option

  • 4 years is the average time it takes to get a diagnosis for known rare diseases

  • 50% of patients do not have a confirmed molecular diagnosis

  • For 52% of patients and carers, their condition has a severe impact on their daily lives

Our Vision

To Bring New Hope for Rare Diseases Patients

Better prevention, better diagnosis, better treatment. This is our pledge to the over 30 million people living with a rare disease in Europe.

We represent over 170 organisations from 37 countries working closely together with a shared vision of making Europe a world leader in rare diseases research and innovation to ultimately support concrete health benefits to rare diseases patients through improved prevention, diagnosis and treatment.

Scientist

Our Mission

To transform rare disease research and care in Europe

Building on the achievements of previous partnerships’, ERDERA will:

  • enhance collaboration, align research funding and enable optimal integration of EU and national rare diseases strategies and plans.
  • bridge the huge gap that hampers the translation of research results into cost-effective solutions that reach patients
  • help reduce the fragmentation of knowledge and data and evolve towards a holistic approach to research and innovation in rare diseases.

Our Ambition

To deliver tangible solutions for better outcomes

  • Diagnosis within 6 months for identified diseases or inclusion in a global diagnostic and research pipeline for unknown disorders.
  • 1000 new therapies approved to offer a treatment to the currently 95% rare diseases with no therapeutic option available. This means expediting clinical trial readiness and regulatory fit to pave the way for approval.
  • Better evaluation and understanding of the impact of RD on patients, families and health care systems to inform policy decisions.

Our Roadmap

  • Enabling patient-need led science by providing a rare diseases research support pipeline from basic research to clinical trial readiness
  • Improve understanding of rare diseases impact and the potential benefit of new interventions.
  • Combining financing of research by public and private funders.

  • Building on existing infrastructures encompassing ERDRI, the EJP RD Virtual Platform, RD-Connect, and services not specific for rare diseases (e.g., BBMRI-ERIC).
  • Promoting advanced data analysis and data interpretation methods and approaches (both federated and centralised) that exploit this ecosystem.
  • Enhancing the development of data-driven computational tools, statistical and AI methods, as well as digital solutions to understand the diseases progression, to solve undiagnosed rare disease cases and implement new clinical studies or trials designs for small populations.

  • Ensuring an inclusive route and sufficient resources to empower those affected by a rare disease and their representatives as equal partners in research, involving them in all governance and implementation stages of ERDERA, offering training or orientation as needed.
  • Establishing a structured and flexible framework for patient engagement in research (including funding).
  • Building new or expanding existing networks and supporting dedicated research to address inequities in the study of various types of rare diseases.

  • Enabling stakeholders participating in projects financed through ERDERA competitive calls of performing in house research activities to upgrade their scientific, technology and regulatory knowledge through capacity building activities.
  • Providing and accredited, comprehensive and high-quality online education programme for rare disease researchers, using existing modules and developing new ones.

  • Stepping up the integration of industry, regulators and payers into the existing rare disease community.
  • Expanding the rare diseases research network and opportunities to more countries and stakeholders, attracting more resources, know-how and talent.
  • Facilitating the adoption of good practices at the national and regional level through rare diseases National Mirror Groups (NMGs).
  • Ensuring coherence and impact of all actions through adequate coordination, governance and advisory structures…
Doctor