UAE: MBRU Researchers make first novel gene discovery

The finding comes in time for World DNA Day on April 25

By Sahim Salim, Nasreen Abdulla

Published: Mon 25 Apr 2022, 8:29 PM

The first novel gene discovery in the UAE has been made by researchers at the Mohammed Bin Rashid University Of Medicine and Health Sciences (MBRU). The finding, which comes in time for World DNA Day on April 25, is a first in scientific literature and was found in an Emirati patient with a multisystem rare disease.

“This gene was identified by whole exome sequencing at Al Jalila Genomics Center but has not been previously reported in the scientific literature,” said Ahmad Abou Tayoun, Director, Al Jalila Children's Genomics Center and Associate Professor of Genetics at MBRU. “Our functional data has confirmed that this gene is the actual cause of disease in this patient. We have since then, and in collaboration with other scientists, identified similar mutations in this gene from similarly affected patients in other Gulf countries.”

Researchers hope that this information will help the patient to manage possible treatment plans and equip the family to understand recurrence risks and navigate ways to avoid similarly affected pregnancies in the future.

The discovery will have an impact on other similarly affected patients worldwide and will further help understand the biology of disease due to this gene.

In addition to this, UAE has made several advances when it comes to genome sequencing. At the Al Jalila Children's Genomics Centre, all complex testing is being done locally and this is helping cut cost of healthcare on government.Some of the tests the centre conducts includes whole exome sequencing, chromosomal microarrays, methylation testing and more recently rapid whole genome sequencing (rWGS) within approximately 37 hours for critically ill patients in the neonatal and pediatric intensive care units. This service is the first and only in the region and will prove a lifesaver for patients.

According to Ahmed Abou Tayoun, the future is looking bright for the Center of Genomic Discovery. “This is the only center of its kind in the UAE which creates an interconnected genomics ecosystem where undiagnosed patients at Al Jalila Children’s Specialty Hospital (AJCH) are recruited for gene discovery by MBRU scientists,” he said. “Given that many of those patients receive comprehensive genomic testing as part of their clinical work up, the data will be, with appropriate consent process, available to scientists to scan their genomes for cryptic changes which might explain their disease, and which require further functional characterization.

“Ultimately, newly characterized genes will lead to additional diagnoses and will feed back into the patients in this population. Hence, the Centre for Genomic Discovery creates a genomics continuum between patients, clinicians, and scientists, ultimately leading to novel gene discoveries and resolving cases with novel rare diseases. We have a growing list of other families where novel genes are highly suspected to cause rare new diseases, and which the Centre will embark on functionally characterizing in the near future.”

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