Edition of 23 October 2026

The Aspire4Rare initiative recently published a report entitled “Untangling the Maze: An Archetype Approach to Rare Disease Diagnosis.” This report examines the root causes of diagnostic delay in rare diseases in order to identify strategies to accelerate diagnosis and improve access to care.

Aspire4Rare is a UCB-funded initiative developed in collaboration with stakeholders across the rare disease community, including policymakers, healthcare professionals, and patient organisations. Designed to complement existing efforts, the initiative aims to support meaningful progress in rare disease care and policy. This report specifically draws on the contributions of a diverse group of stakeholders from around the world including the umbrella organisation Rare Diseases South Africa (RDSA), who recently published an article about their contribution to the report.

The report highlights six key, system-wide priorities which can facilitate earlier and more accurate diagnosis for people living with a rare disease:

• Embed rare disease training across the workforce;
• Expand access to advanced diagnostics and genetic services;
• Invest in interoperable health information systems and registries;
• Strengthen primary-care referral pathways and telehealth access;
• Promote collaborative research and secondary use of data;
• Support awareness and inclusion for underserved and marginalised groups.

The framework proposed by this report is meant to provide all stakeholders, from policymakers, to clinicians, to patient representatives and beyond, with evidence-based information and recommendations to inform their work to improve the lives of people living with a rare disease.

While the report primarily takes a global, system-wide approach, specific calls to action are also identified for a number of regions: Europe, Latin America and the Caribbean, the United States, Asia-Pacific, and Africa. These “Regional Call-Outs” consider the specific context and of each region, and identify tailored opportunities for improving diagnosis at the regional level.

On 1 October 2026, new changes to Australia’s National Disability Insurance Scheme (NDIS) came into effect, introducing new eligibility criteria for accessing safeguards for high support needs participants. Following the introduction of these changes, Rare Voices Australia (RVA) voiced concern that the updated eligibility criteria may exclude people with rare disease disability from important safeguards.

Under the NDIS’s new eligibility criteria, only individuals currently receiving funded 24-hour support qualify for high support needs safeguards. However, RVA highlights that while Australians living with rare disease disability often require 24-hour high intensity support, they also often face difficulties finding appropriate care due to the high complexity associated with rare diseases. Therefore, the exclusion of individuals who need full-time care but are not able to access it puts individuals living with rare disease disability at risk of having their access to safeguards denied.

In order to avoid a disproportionately negative impact on the rare disease community, RVA is calling on Australia’s Department of Health, Disability and Ageing and the National Disability Agency to:

• Ensure that eligibility for safeguards for high support needs participants is based on requiring 24-hour support
• Work with RVA and other Disability Representative and Carer Organisations to monitor, identify and address unintended consequences early.