Doha, Qatar: The Zebrafish Functional Genomics Facility at Sidra Medicine is leading the way in determining the cause and treatment of inherited disorders in children.
The facility has adopted a remarkable approach to swiftly identify the causes of rare diseases and explore potential treatment solutions.
According to the Centre for Arab Genomic Studies, there are 2.8 million people living with rare diseases in the Middle East. Recognising the prevalence of inherited blood disorders like sickle cell disease and rare conditions in the Arab world, often stemming from single gene mutations, the hospital employs cutting-edge techniques to accelerate the diagnostic process.
Specifically designed to address the unique challenges of diagnosing and treating rare diseases, Sidra Medicine focuses on paediatric patients, aiming to become a regional hub for this critical aspect of healthcare. “90 per cent of our patients are kids, and some of them are very, very sick kids,” said Dr. Khalid Fakhro, Chief Research Officer and Chair of the Precision Medicine Program at Sidra Medicine in a recent interview with The Telegraph. “The thing about rare disease is that it’s very hard to diagnose, so families will go from one clinic to the next, and sometimes they have to go overseas. Health economics studies have shown that it takes five to seven years to diagnose a rare disease. It’s called the diagnostic odyssey,” he said.
Despite challenges posed by the diagnostic odyssey — typically taking five to seven years — Sidra Medicine has streamlined the process. Utilising the zebrafish, a species sharing 70 per cent of its genes with humans, researchers can rapidly study the effects of gene mutations.
If the patient is found to carry a particularly unusual mutation, one that scientists have never encountered before, they begin the process of attempting to replicate the biology in a zebrafish embryo.
Zebrafish offer advantages over traditional models, as they can be easily maintained in large numbers and exhibit rapid development, providing valuable insights within a week — equivalent to months in humans.
“No one would imagine that a tiny fish from the Indian Ocean would be used in biomedical research,” Dr. Sahar Da’as, who leads the Sidra Medicine Zebrafish Facility said. “But of the genes we have in common, 84 per cent are related to human disease genes.” When a child with unexplained symptoms arrives at Sidra Medicine, their genome is promptly sequenced. If a unique gene mutation is detected, scientists work to replicate the biology in a zebrafish embryo. Specialised Casper fish, with transparent skin, aid in observing internal organ formation and assessing the impact of mutations on various bodily functions.
“Five days in the fish’s life is equivalent to nine months in humans, while that would be around 21 days for rats and mice,” says Dr. Da’as. “So within one week, we are able to give answers to patients.” We can see the formation of the liver, pancreas, motor neurons, muscle development,” explains Da’as. “From our imaging, we can tell if the brain size is smaller than expected due to a mutation.
“Any biological changes that might affect the ability of a child to walk, we can detect through their swimming. If fish are experiencing seizures, we can see that because their tails will coil faster. We can do visual and auditory tests on them to see whether their sight or hearing is normal.”
Sidra Medicine’s approach allows for a quick transition from identifying rare diseases to potential treatments, with the goal of delivering personalised therapies within three months — a remarkable feat compared to the typical five-year timeline for diagnosis reported by the European Commission. Sidra Medicine also plans to collaborate with pharmaceutical companies for clinical trials, aiming to develop novel medicines tailored to patients with rare disease.
