Burjeel Medical City Advances Care for Rare Diseases

Burjeel Medical City Advances Care for Rare Diseases

Abu Dhabi is emerging as a leader in advanced medical care, particularly in the field of rare and inherited diseases. Burjeel Medical City (BMC) is at the forefront of this transformation, with specialized centers dedicated to the diagnosis, treatment, and research of genetic disorders. The Genetics and Rare Disease Center and the Thalassemia & Sickle Cell Center are pioneering new models of care that aim to improve patient outcomes across the Middle East.

Comprehensive Care for Rare Diseases

Rare diseases, defined as conditions affecting fewer than one in 2,000 individuals, encompass over 10,000 identified disorders worldwide. Collectively, these diseases impact 5 to 10 percent of the global population, with more than 70 percent being genetic in nature. This highlights the critical need for accurate diagnosis and effective management strategies.

The Genetics and Rare Disease Center at BMC was established to provide a comprehensive continuum of care for patients who often face prolonged periods of misdiagnosis. The center integrates clinical evaluation, genetic testing, counseling, and advanced therapies into a single, coordinated system.

Prof. Ayman El-Hattab, the Director of the Genetics and Rare Disease Center, emphasizes the importance of clarity in diagnosis. “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,” he explains.

Specialized Units and Services

The center operates three primary units: Clinical Care, Innovative Trials, and Social Integration and Education. This structure allows for a holistic approach that combines medical care, research, and patient support. In partnership with OncoHelix-CoLab, a collaboration with Canadian genomic experts, BMC has introduced advanced sequencing technologies to enhance diagnostic capabilities.

Among the specialized outpatient clinics offered are the Cancer Genetics Clinic, which assesses hereditary cancer risks, and the Neurogenetics Clinic, which focuses on neurological and developmental disorders. Recently, a dedicated Down Syndrome Clinic was established to provide personalized, multidisciplinary care for affected children.

In addition to clinical services, the center conducts observational studies to understand the natural progression of rare diseases in the Gulf region. This research is vital for identifying patients eligible for clinical trials of novel drugs and gene therapies, with ongoing studies for conditions such as Duchenne muscular dystrophy and Angelman syndrome.

Addressing Blood Disorders

Thalassemia and sickle cell disease are among the most prevalent inherited blood disorders, particularly in the Middle East. These conditions can lead to significant health challenges and require long-term treatment strategies. To meet these needs, Burjeel Holdings established the Thalassemia & Sickle Cell Center at BMC, under the leadership of Prof. Khaled Musallam.

Prof. Musallam is a recognized expert in thalassemia and has contributed significantly to international management guidelines. He emphasizes a chronic but manageable approach to these diseases, stating, “When care is organized, survival improves and the burden on families decreases.”

Advanced Treatment Facilities

Since its launch in May 2025, the Thalassemia & Sickle Cell Center has become one of the most advanced facilities 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 benefit from seamless integration with BMC’s quaternary care system, which provides access to advanced laboratory and imaging facilities, as well as specialists in various fields such as cardiology and endocrinology. This comprehensive approach allows for effective long-term monitoring and management of complications.

Under Prof. Musallam’s guidance, the Center for Research on Rare Blood Disorders (CR-RBD) has emerged as a significant research hub for thalassemia. The center has conducted global clinical trials that have led to the development of new therapies, improving patient access to innovative treatments previously available only abroad.

Collaborative Efforts and Future Directions

BMC’s connected quaternary care network is a key strength, allowing the Genetics and Rare Disease Center and the Thalassemia & Sickle Cell Center to work closely with a range of specialists. This multidisciplinary approach ensures comprehensive management of each patient’s condition over time.

The impact of these centers extends beyond national borders, fostering collaborations with hospitals, universities, and research organizations worldwide. These partnerships focus on training programs, joint studies, and knowledge-sharing initiatives, enhancing the overall healthcare landscape.

For Abu Dhabi, these advancements signify more than just institutional growth; they reflect the healthcare system’s increasing maturity and its capacity to develop specialized medical programs that integrate science, education, and clinical care to meet evolving health needs.

FAQs

What is the significance of the Genetics and Rare Disease Center at BMC?

The center provides a comprehensive approach to diagnosing and managing rare diseases, integrating clinical care, genetic testing, and research to improve patient outcomes.

How does the Thalassemia & Sickle Cell Center support patients?

The center offers advanced treatment facilities, including a seven-day transfusion service and 24-hour management for sickle cell crises, ensuring continuous care and support for patients.

What role does research play in these centers?

Both centers conduct observational studies and clinical trials to advance understanding and treatment of rare diseases, contributing to the development of innovative therapies and improving patient care.

Conclusion

Burjeel Medical City is setting new benchmarks in the management of rare and genetic disorders through its specialized centers. By integrating advanced medical care with research and education, BMC is not only enhancing patient outcomes but also contributing to the broader healthcare landscape in the region. The ongoing collaborations and innovative approaches promise to further improve the quality of care for patients with rare diseases.

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