Collaborative Global Network for Rare Diseases

Together with the World Health Organisation (WHO), the global rare disease community is working towards the development of the first Collaborative Global Network for Rare Diseases (CGN4RD).

The CGN4RD will pool resources and expertise for rare diseases and connect centres of care to improve diagnosis and care for persons living with a rare disease.

Vision – CGN4RD

A world where persons living with a rare disease (PLWRD), no matter where they live, can reach a network of expertise for accurate and timely diagnosis and appropriate care.

The vision for the CGN4RD is anchored in the concept of Universal Health Coverage, and WHO’s 13th General Programme of Work 2019-2023 (GPW13) which commits to promoting health for all by addressing the needs of the most vulnerable first.

Pillars of the CGN4RD:

Sustainable Development Goals 2030 -Break down barriers accessing care.
Universal Health Coverage – Strengthen health systems around the world and accelerate pathways to diagnosis for all.
Cover 85 million people living with a rare disease, and progressively expand the Network.

Why a CGN4RD?

The rarity of rare diseases means that expertise amongst health care professionals is sparse. knowledge about each of the over 6000 identified rare diseases is severely limited. And rare diseases are often a low priority for health systems nationally and globally.

Around the world, PLWRD and their families experience difficulty obtaining diagnosis, and accessing adequate treatment as well as healthcare and social support. The common challenges faced by the global community of PLWRD are often felt even more intensely by PLWRD and families in low-and middle-income countries due to budget constraints and competing priorities for healthcare systems.

To strengthen health systems to address the needs of the 300 million persons worldwide living with a rare disease requires common strategies and action at the national, regional and global level.

Mission – CGN4RD

The overarching goal of the CGN4RD is to progressively improve Universal Health Coverage for all people, including PLWRD.

The CGN4RD aims to strengthen health systems for PLWRD by:

  • Raising awareness amongst policy-makers, centres of care and professionals to improve recognition and diagnosis of rare diseases
  • Connecting multi-disciplined specialised centres around the globe to form a single network
  • Pooling Existing rare disease expertise, knowledge and resources
  • Ensuring health professionals can readily access expertise about rare diseases

In addition, the CGN4RD should be a people-cantered global network – promoting open and direct self-referral to expert hubs, and leveraging digital technologies to facilitate access to expertise, so the “expertise travels and not the patient”

Community Engagement

Meaningful engagement of relevant stakeholders and fostering exchange, dialogue and connections across stakeholder groups is key to the development of CGN4RD.

As the initiative advances it will progressively call upon patient organisations, health system providers, specialists, family physicians, national policy makers and authorities.

RDI, as the global alliance of patient organisations, is committed to ensuring that the voices and perspectives of PLWRD and their organisations are reflected at every stage of the initiative.

In 2020 over 60 patient representatives took part in focus group meetings and offered written feedback to help develop the Population Needs Assessment Study Report, a key document shared with the WHO in April 2021.

Patient organisations and PLWRD are now members of the Panel of Experts, an inclusive consultative group from all WHO regions. The Panel of Experts brings together rare disease organisations, PLWRD, researchers and healthcare professionals to help validate project findings and provide input towards the development of pilots for the first Global Network for persons living with a rare disease.

Timeline – CGN4RD

2020 – 2024:

  • Discovery and Development
  • Pilot Development and Evaluation

2025 – 2029:

  • Assessing Pilots
  • Scaling and Increasing Coverage

2030 – 2034:

  • Evaluation and Renewal