World Rare Disease Day: A call to build a brighter future for people living with rare diseases

Imagine feeling unwell and seeking professional help, yet no one can tell you what is wrong, even after years of tests. For most people, a visit to the doctor results in an answer within days. But for the 300 million people worldwide living with a rare disease, half of whom are children, this process takes an average of five years.

Even when a diagnosis is finally made, fewer than 10 per cent of rare conditions have an approved treatment. However, medical advances alongside growing awareness are driving new solutions for people living with rare diseases globally. In 2025, Ministers of Health from around the world united at the World Health Assembly (WHA) to pass a landmark agreement on rare diseases. It was a turning point that shifted rare diseases from an overlooked concern to a global health priority.

In the Middle East and Africa, public-private partnerships and digital innovations are shrinking diagnostic journeys and bringing world-class care closer to home. To ensure this translates into real change for patients in our region, we must now focus our efforts on three critical areas.

First, we must diagnose these diseases earlier and faster. Adoption of digital tools that support clinical decisions is key, and a shift currently being driven by innovative regional collaborations. One of these partnerships is integrating AI technologies to accelerate the diagnosis of a rare disorder across the Middle East and Africa, while reducing the risk of misdiagnosis and its consequences, helping patients access appropriate care in less time.

Secondly, we should work to raise standards of care by localising specialist expertise through the establishment of an integrated network of specialised Centres of Excellence which is one of the most sustainable approaches for the Middle East and Africa. By transferring knowledge and concentrating resources within countries, these hubs enable patients to receive the care they need close to home, without having to travel long distances or go to other countries, which creates a significant burden that many patients find difficult to bear.

Finally, prioritising equitable access is essential, so that medical innovations are available to everyone. Given 70 per cent of rare diseases present in childhood, universal newborn screening is a critical way for health authorities to enable early disease diagnosis, even before symptom onset. It is encouraging to see rapid, genome-based newborn screening being rolled out in Saudi Arabia, through the BeginNGS Consortium, which will enable screening for over 500 severe genetic conditions. At the same time, we are working with governments and health providers to find more sustainable ways to fund care. Egypt is pioneering this across the region and was a key sponsor of the WHA resolution.

None of this is simple, but moments like Rare Disease Day remind us why this work cannot wait. Progress is possible when we work together across the healthcare ecosystem and focus on what matters most to patients. We can start by prioritising earlier diagnosis, coordinated specialist care, and equitable access. Delivering on these priorities will mean fewer years searching for answers, fewer preventable complications, and more patients and families who are supported. These outcomes must be our true measure of success.

Pelin Incesu is Area Vice-President, Middle East & Africa, AstraZeneca