How precision medicine sparks hope for rare disease patients in the UAE

Dubai: 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.

“Precision medicine allows us to move beyond symptom-based treatment to gene-level diagnosis and targeted intervention. In disorders such as spinal muscular atrophy or duchenne muscular dystrophy, therapies like gene replacement, exon-skipping, and molecular modulation are designed to correct or compensate for specific genetic defects. Without precise genetic characterisation, these treatments cannot be appropriately offered,” Dr. Vivek Mundada, consultant paediatric neurology at Medcare Royal Speciality Hospital, told Gulf News.

“Moreover, rare diseases frequently involve multiple organ systems. Personalised care plans—integrating neurology, respiratory care, cardiology, nutrition, and rehabilitation, are essential for improving both survival and quality of life. Precision medicine transforms rare disease care from reactive and supportive to proactive and disease-modifying.”

One of the most significant findings in rare disease care has been the growing accessibility of early genomic screening. Advanced sequencing technologies can now analyse vast portions of the genome in a matter of days, a process that once took years.

“Early genomic screening is also transforming patient journeys. Instead of years of sequential testing, whole-exome or whole-genome sequencing can provide answers early in life. When genomic data is integrated with clinical records, imaging, and digital pathology, diagnostic time is significantly reduced. This shift from reactive to predictive medicine improves outcomes and reduces healthcare costs,” said Dr. Antony Thomas, director of diagnostic services and pathologist at Prime Hospital.

In the UAE, national initiatives such as the Emirati Genome Program are building one of the region’s most comprehensive genetic databases. 

“By building a national genomic database and embedding molecular diagnostics into routine care, the country is advancing evidence-based precision medicine at scale,” added Thomas.

Meanwhile, health experts have highlighted the UAE’s role as a regional leader in advanced healthcare, especially in genetics and rare diseases.

According to Mundada, “What distinguishes the UAE is its ability to scale innovation quickly. When supported by structured policy and digital integration, precision medicine does not remain confined to academic centres, it becomes part of national healthcare delivery.”

“The UAE is demonstrating how personalised medicine can move from concept to clinical reality, particularly for patients living with rare diseases,” added Thomas.

The message from doctors is clear, precision medicine is no longer a distant promise. In the UAE, it is within reach, offering renewed hope to patients whose conditions were once considered too rare to treat effectively.