Sidra Medicine at the forefront in the diagnosis and treatment of rare Pediatric diseases

Sidra Medicine

The Zebrafish Functional Genomics Facility at Sidra Medicine is at the forefront of investigating the origins and remedies for inherited disorders in children. They have embraced an innovative strategy to quickly pinpoint the reasons behind rare diseases and investigate possible treatment options.

The Center for Arab Genomic Studies reports that there are 2.8 million individuals grappling with rare diseases in the Middle East. Acknowledging the common occurrence of inherited blood disorders such as sickle cell disease and uncommon conditions in the Arab region, often arising from individual gene mutations, the hospital utilizes state-of-the-art methods to expedite the diagnostic procedure.

Specifically tailored to address the distinctive challenges associated with diagnosing and treating rare diseases, Sidra Medicine concentrates on pediatric patients with the goal of becoming a regional hub for this critical aspect of healthcare. Dr. Khalid Fakhro, Chief Research Officer and Chair of the Precision Medicine Program at Sidra Medicine, emphasized in a recent interview with The Telegraph that 90% of their patients are children, some of whom are severely ill.

Dr. Fakhro highlighted the difficulty in diagnosing rare diseases, often leading families to seek answers from various clinics, and sometimes even overseas.

The diagnostic process, known as the "diagnostic odyssey," typically takes five to seven years, as revealed by health economics studies. However, despite the challenges posed by this diagnostic journey, Sidra Medicine has streamlined the process. By utilizing the zebrafish, a species sharing 70% of its genes with humans, researchers can swiftly investigate the impacts of gene mutations.

In cases where a patient is identified as carrying an exceptionally rare mutation unfamiliar to scientists, the process involves attempting to recreate the biological conditions in a zebrafish embryo.

Zebrafish offer distinct advantages over traditional models due to their ease of maintenance in large numbers and their rapid development, providing insights in a week that would be equivalent to months in humans.

Dr. Sahar Da’as, who leads the Sidra Medicine Zebrafish Facility, emphasized the surprising utility of this tiny fish from the Indian Ocean in biomedical research. She highlighted that 84% of the genes shared with humans are related to human disease genes.

When a child with unexplained symptoms arrives at Sidra Medicine, their genome undergoes rapid sequencing. If a unique gene mutation is detected, scientists work to recreate the biological conditions in a zebrafish embryo, using specialized Casper fish with transparent skin to observe internal organ formation and assess the impact of mutations on various bodily functions.

Dr. Da’as explained that due to the rapid development of zebrafish, one week of observation is equivalent to nine months in humans, providing quick answers to patients. The facility can detect changes in organ formation, assess motor neuron development, and identify mutations affecting brain size or other functions.

Sidra Medicine's approach facilitates a swift transition from identifying rare diseases to potential treatments, with the aim of delivering personalized therapies within three months—a notable achievement compared to the typical five-year diagnosis timeline reported by the European Commission.

Additionally, Sidra Medicine plans to collaborate with pharmaceutical companies for clinical trials, intending to develop novel medicines tailored to patients with rare diseases.

Source: The Peninsula