UAE: MBRU Researchers make first novel gene discovery

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