Rare diseases on the rise in Greece as diagnosis improves

Diseases once considered rare are becoming increasingly common in Greece, with nationwide data showing a steady rise in diagnosed cases across several conditions listed by the Health Ministry.

Experts say the increase is partly due to advances in genetic testing and diagnostic tools, which now allow earlier and more accurate identification. At the same time, the definition of a “rare disease” has evolved—from affecting 1 in 10,000 people a decade ago to as many as 1 in 2,000 today.

Conditions such as Crohn’s disease have already lost their “rare” classification due to rising incidence, while others, including spinal muscular atrophy and cystic fibrosis, are also being diagnosed more frequently.

Globally, more than 300 million people are believed to live with a rare or undiagnosed condition, with over 7,000 such diseases identified—most of them genetic and many affecting children.

In Greece, an estimated 500,000 people are living with rare diseases. Advances in gene sequencing and the wider use of prenatal and preventive testing have significantly improved detection rates, transforming what was once a long and often inconclusive diagnostic journey.

However, living with a rare disease remains challenging. Patients often require continuous medical care, specialized treatment, and long-term monitoring. Delays in diagnosis or access to therapy can lead to irreversible health deterioration.

Despite progress, gaps remain in the healthcare system. While Greece has developed dozens of specialized centers and clinics, coordination between services is still limited, forcing many patients to navigate a complex path before reaching appropriate care.

Specialists emphasize that international collaboration—particularly through European networks connecting hospitals and experts—is key to improving diagnosis, treatment access, and patient outcomes in this rapidly evolving field.