Burjeel Medical City pioneers regional model for rare and genetic disorders

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

These centers were created to address a long-standing 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 neighboring 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 percent of the global population. More than 70 percent 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. The center integrates clinical evaluation, genetic testing, counseling, and advanced therapies within a single coordinated system.

“Patients with rare and genetic conditions often spend years moving between clinics without answers. Our goal is to bring clarity by using precise genetic testing and multidisciplinary input to guide management from the start,” said Prof. Ayman El-Hattab, Director of the Genetics and Rare Disease Center.

The center operates three main units: Clinical Care, Innovative Trials, and Social Integration and Education. Together, they create a structure that combines medical care, research, and patient support. Molecular and biochemical diagnostics are conducted in-house in partnership with OncoHelix-CoLab, a collaboration with Canadian genomic experts that has introduced advanced sequencing technologies to the UAE.

The Genetics and Rare Disease Center offers various specialized outpatient clinics that provide focused evaluation and management. The Cancer Genetics Clinic works with oncology teams to assess individuals and families with hereditary cancer risk, while the Neurogenetics Clinic manages neurological and developmental disorders such as epilepsy, autism, and muscle weakness. A dedicated Down Syndrome Clinic was also recently established at the center to offer personalized multidisciplinary care for children with Down syndrome.

The Genetics and Rare Disease Center is also conducting observational studies to understand the natural course of several rare diseases in the Gulf, to pinpoint key attributes of the disease in need of new management solutions.

These data will allow an informed decision on which patients to include in clinical trials of novel drugs and gene therapies, with several being set up at the center for various diseases such as Duchenne muscular dystrophies, Angelman syndrome, hypochondroplasia, galactosemia, and other genetic disorders.

“We are treating patients and building local capacity in genetics and rare disease research so that future patients can benefit from better tools for faster diagnosis and effective treatment,” said Prof. Ayman. So far, the Center has treated over 2000 patients, with various rare and ultra rare diseases.

Thalassemia and sickle cell disease remain among the most common inherited blood disorders in the world, with particularly high prevalence in the Middle East. They can be associated with significant morbidity and diminished quality of life, and the burden of long-term treatment including lifelong, monthly transfusions in severe cases can take a toll on the patient, their family, and the entire healthcare system.

To address these needs, Burjeel Holdings established the Thalassemia & Sickle Cell Center at BMC, led by Prof. Khaled Musallam, Group Chief Research Officer at Burjeel Holdings and Director of the Center.

Prof. Musallam is recognised as a global authority in thalassemia, author of the international management guidelines widely used from the US to Asia, and recent recipient of the European Haematology Association’s Clinical Excellence Award in recognition to his contributions in the field especially the introduction of various novel therapies.

“Our approach is to treat these conditions as chronic but manageable diseases. When care is organized, survival improves and the burden on families decreases,” said Prof. Khaled.

The center’s Medical Head, Dr. Farrukh Shah, brings decades of experience managing some of the largest thalassemia and sickle cell patient cohorts in London. Since its launch in May 2025, the center has evolved into one of the most advanced facilities of its kind in the region. It offers a seven-day transfusion service and 24-hour management for sickle cell crises including automated exchange transfusions for complex cases.

Patients also benefit from seamless integration with BMC’s quaternary care system, which provides access to advanced laboratory and imaging facilities, and specialists in cardiology, endocrinology, hepatology, and psychology. This allows for long-term monitoring and management of complications that may affect vital organs.

Under Prof. Khaled Musallam leadership, the Center for Research on Rare Blood Disorders (CR-RBD) was also established and swiftly evolved to one of the most impactful research hubs for thalassemia globally. It has conducted global clinical trials that resulted in new disease-modifying therapies that can lessen the burden of anemia and transfusion requirement in thalassemia, giving patients in the UAE access to innovative treatments, once only available abroad.

“We are entering an era of data-driven understanding of hemoglobin disorders, both globally and in the region. That is the foundation for improving patient outcomes and for developing new treatments that can address persisting unmet needs,” said Prof. Khaled.

One of the key strengths of BMC is its connected quaternary care network. The Genetics and Rare Disease Center and the Thalassemia & Sickle Cell Center work closely with a range of specialists to ensure continuity of care. This multidisciplinary approach allows each patient’s condition to be managed comprehensively over time, with close coordination between medical teams.

The impact of both centers now extends beyond national borders. Hospitals, universities, and research organizations from across the world are collaborating with BMC on training programs, joint studies, and knowledge-sharing initiatives.

For Abu Dhabi, these developments represent more than institutional progress. They reflect the growing maturity of the healthcare system and its ability to build specialized medical programs that combine science, education, and clinical care to meet the region’s evolving health needs.