UAE researchers have made a commendable discovery of the first novel gene. The discovery was made by researchers at the Mohammed Bin Rashid University Of Medicine and Health Sciences (MBRU) in an Emirati patient with a multisystem rare disease. The first-of-its-kind finding in scientific literature has come on the occasion of World DNA Day on April 25. 

According to Ahmad Abou Tayoun, Director, Al Jalila Children's Genomics Center and Associate Professor of Genetics at MBRU, the gene was identified through a whole-exome sequencing at Al Jalila Genomics Center. It has not yet been reported in the scientific literature.

“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," the official added. 

Researchers have expressed hope for the information to help patients in managing possible treatment plans and enhancing the family's understanding of possible risks. The research will also help the patient and their families to navigate ways to avoid similarly affected pregnancies in the future.

In addition, the discovery will be helpful for similarly affected patients in countries across the world to further understand the biology of disease due to this gene.

At the same time, the UAE has made many more advancements in genome sequencing. The Al Jalila Children's Genomics Centre is carrying out all complex testing at the local level to help the government in cutting healthcare costs. 

Some of the tests being conducted by the centre include whole-exome sequencing, chromosomal microarrays, and methylation testing. More recently, the centre conducted rapid whole genome sequencing (rWGS) within approximately 37 hours for critically ill patients in the neonatal and pediatric intensive care units. It is a first-of-its-kind service in the region which will prove to be a lifesaver for patients.

Ahmed Abou Tayoun affirmed that the future is looking bright for the Center of Genomic Discovery. He noted that it is the only center of its kind in the UAE which has created an interconnected genomics ecosystem where MBRU scientists are recruiting undiagnosed patients at Al Jalila Children’s Specialty Hospital (AJCH) for gene discovery.

“Given that many of those patients receive comprehensive genomic testing as part of their clinical workup, 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," he added.

Moving forward, newly characterized genes will facilitate additional diagnoses and feedback for patients in the category. As a result, the Centre for Genomic Discovery has created a genomics continuum between patients, clinicians, and scientists to boost novel gene discoveries and resolve 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," he concluded. 

SOURCE LINKS: https://www.khaleejtimes.com/uae/uae-mbru-researchers-make-first-novel-gene-discovery