Precision medicine sparks hope for rare disease patients

PERSONALISED HEALTH STRATEGIES RESHAPE DIAGNOSIS, TREATMENT

- BY TRICIA GAJITOS

Rare diseases affect a small number of individuals but collectively they represent a substantial number of distinct conditions, many of which are genetic.

Millions of people worldwide have been affected by rare diseases and many of them face years of uncertainty before receiving a diagnosis.

With this, the shift towards personalised, evidence-based care is gaining urgency.

In the UAE, investments in genomics, artificial intelligence, and integrated health systems have placed the country at the front of this medical development.

Rare diseases, by definition, affect a small percentage of the population, yet collectively they represent a substantial number of distinct conditions, many of which are genetic. Because symptoms often mimic more common illnesses, patients frequently endure what specialists describe as a “diagnostic odyssey”, consulting multiple doctors over several years before reaching clarity.

This is when precision medicine plays its part. By analysing a patient's genetic makeup, doctors can determine the underlying cause of a condition more accurately and, in some cases, identify targeted therapies.