‘Diagnostic odyssey’ is a phenomenon where a patient will spend an average of 5 years seeking different physicians, undergo tests and, in many cases, travel the world to find a cure for their illness. This happens when an individual presents a symptom that is unheard of or does not fit the description of a commonly known disease.

If the patient is not provided with an accurate diagnosis in time, it can negatively impact the health outcome. Qatar Foundation’s Sidra Medicine wishes to apply precision genomic medicine to treat children with rare diseases and transform the healthcare landscape in Qatar.

Genome sequencing is a diagnostic tool that is currently being researched at Sidra Medicine, allowing it to decode a genome and identify if any disease-causing mutations are present.

According to Dr. Khalid Fakhro, Acting Chief Research Officer at Sidra Medicine and Director of its Precision Medicine Program, “Sidra Medicine is an academic medical center where education, research, and clinical practice converge to deliver the best care for women and children. It’s where scientists and doctors work alongside each other, supported by cutting-edge technologies, to help find answers, and give our patients hope and confidence where it may not have been seen before.”

In July 2019, a baby suffering from severe infections and poor muscle tone since birth visited Sidra Medicine. Frequent infections had resulted in injuries to her gut and lungs, due to which she repeatedly required assisted ventilation. The illness had rapidly taken a toll on her young body, resulting in loss of weight and a lack of growth.

The child underwent clinical genetic testing by sending their samples abroad to a commercial lab. The mutations identified were not particularly known to be disease-causing, requiring more research on the patient's condition.

Dr. Khalid Fakhro, Acting Chief Research Officer at Sidra Medicine

Dr. Amel Hassan, Senior Attending Physician in Allergy and Immunology, and Dr. Bernice Lo, Principal Investigator in Human Genetics studied the patient’s white blood cells and identified that the child’s immune function was impaired and that a variant in the gene ORAI1 could explain the child’s condition.

After confirming a functional defect in the ORAI1, treatment was issued for the related immune deficiency. The child was immediately put on a new treatment plan and improved her clinical condition, allowing her to leave the hospital for the first time in seven months.

According to Dr. Hassan, she would have passed away before seeing her second birthday if her condition had been left untreated. “The ability to perform genetic testing at Sidra Medicine allowed us to diagnose the child’s condition in a timely manner thereby preventing the risk of multi-organ complications, which could have proved to be fatal. A similar diagnosis, five years ago, would have necessitated a trip abroad,” he added.

According to Dr. Fakhro, “At Sidra Medicine, we have established a center of excellence in genomic medicine. In the coming years, we aim to make genome sequencing available to all our patients. Imagine every patient having their genome sequenced and already in their medical record. We can then predict disease risk, know a patient’s drug sensitivities, and tailor treatment to an individual’s genome. That would be transformational; that is true Precision Medicine.”

Sidra Medicine remains committed to taking research from bench to bedside by eliminating the barriers between research and clinical practice and allowing their researchers and physicians to work side-by-side.

For more information on Qatar Foundation’s initiatives, please visit www.qf.org.qa

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