From Invisible to Visible: Advancing the Global Health Agenda on Rare Diseases Care and Innovation

Background:

Rare diseases, often referred to as “orphan diseases”, affect a small percentage of the population but collectively impact millions of people worldwide. Despite their relatively low prevalence, rare diseases present significant challenges to health systems. These include delays in diagnosis, limited access to specialized care, and insufficient treatment options. Moreover, many of these diseases remain under-researched, and patients often experience social stigma and a lack of adequate support, exacerbating their difficulties.

In response to these challenges, the World Health Assembly Resolution on rare diseases sponsored by the Arab Republic of Egypt and the Kingdom of Spain and co-sponsored by 28 Member States has placed a global commitment to improving care for persons living with rare diseases. This resolution urges Member States to take comprehensive steps, such as enhancing access to treatments, improving diagnostic capabilities, and investing in research and innovation. It also calls for the development of national strategies and the integration of rare disease considerations into broader health policies to ensure equitable care for all affected individuals. Additionally, the resolution requests the World Health Organization to develop a Global Action Plan on rare diseases, which would serve as a roadmap for coordinated global efforts to address the needs of those living with these conditions.

Despite the significant progress made following the adoption of the UN Resolution on addressing the challenges faced by those living with rare diseases in 2021, rare diseases continue to remain “invisible” in many national health agendas. Limited recognition at both the policy and funding levels, along with the lack of specialized expertise, continue to create barriers to effective care and innovation.

This side event seeks to build upon the WHA Resolution by advocating for greater visibility of rare diseases, fostering global collaboration, and driving innovation in the sector to ensure that the objectives of the resolution are fulfilled. By working together, we can create a world where rare diseases are no longer overlooked, and all persons living with these conditions receive the care, support, and attention they deserve.

Side Event Objectives:

The overall objective of the event is to engage Ministries of Health, the WHO, representatives from the private sectors, and Non-governmental organizations in a collaborative dialogue on the urgent need to prioritize rare diseases within global health agenda. Through a discussion centered on the WHA Resolution on Rare Diseases, the event aims to highlight critical healthcare gaps affecting persons living with rare diseases (PLWRD), their families and caregivers. By showcasing successful global initiatives, the event will advocate for intensified global efforts to address the unique challenges faced by PLWRD. In particular, the event will:

1. Promote active engagement in advancing the WHO’s efforts in the development of the Global Action Plan for Rare Diseases, and encourage Member States to effectively implement the WHO resolution on rare diseases.

2. Raise awareness and advocate for increased visibility of rare diseases within the broader global health framework, engaging policymakers, healthcare professionals, and the general public.

3. Bring visibility to the challenges faced by PLWRD, highlighting critical gaps in care.

4. Advance international collaboration across governments, international organizations, healthcare providers, researchers, the private sector and policy development to improve rare disease care.

5. Strengthen the research and innovation ecosystem to accelerate the development of new treatments and therapies for rare diseases.

6. Enhance access to healthcare services for rare disease patients, with a particular focus on low- and middle-income countries.

7. Highlight innovative solutions and cutting-edge technologies that can transform the diagnosis, treatment, and care for PLWRD.

8. Provide a platform for sharing successful initiatives, best practices, and case studies from leading countries and organizations making significant strides in rare disease care.

9. Advocate for policy reforms that integrate rare diseases into national health agendas, focusing on increased funding, specialized care, and enhanced accessibility.

Target Audience:

This event is designed for:

§ High-level Government representatives and policymakers

§ Health professionals and researchers

§ Non-governmental organizations (NGOs) and patient advocacy groups

§ Pharmaceutical and biotechnology companies

§ International health organizations

§ The general public interested in advancing healthcare for rare diseases

Expected Outcomes:

• Increased recognition of rare diseases as a critical global health priority.
• Strengthened global partnerships for research and innovation in rare disease care.
• Enhanced policy discussions and commitments at national and international levels.
• Concrete steps toward more inclusive and innovative healthcare systems for rare diseases.