How specialised care for rare and genetic disorders is evolving

With advanced diagnostics, specialised clinics, and innovative trials, BMC is building a regional model for management of rare and inherited diseases

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The centre has become a referral point for regional patients

Abu Dhabi is positioning itself as a leader in advanced medical care in the region. Few areas illustrate this more than the field of rare and inherited diseases. The Genetics and Rare Disease Center and the Thalassemia & Sickle Cell Center at Burjeel Medical City (BMC) are working to reshape how such conditions are diagnosed, treated and studied across the Middle East.

These centres were created to address a longstanding need for coordinated care models that bring together diagnosis, treatment and research. Since their establishment, they have become referral points for patients from across the UAE and neighbouring countries, as well as partners for regional institutions seeking expertise in managing complex genetic and chronic disorders.

A disease is considered rare if it affects fewer than one in 2,000 individuals. While each condition may be uncommon, more than 10,000 rare diseases have been identified worldwide, collectively affecting between 5 and 10 per cent of the global population. More than 70 per cent of these conditions are genetic in origin, which makes accurate diagnosis and lifelong management essential.

The Genetics and Rare Disease Center at BMC was established to address these challenges by providing a full continuum of care for patients who often go undiagnosed or misdiagnosed for years. It integrates clinical evaluation, genetic testing, counselling, and advanced therapies within a single coordinated system.