UAE: Centre that will help detect rare genetic disorders opens in Dubai

Dubai - The Centre for Genomic Discovery has already begun investigations into the cause of a genetic disease in one family within the UAE.

The UAE on Monday launched a first-of-its-kind genome centre that will diagnose and treat kids with rare disorders, boost local genomic research, and train the country’s next generation of scientists.

Called Centre for Genomic Discovery, the project was the result of a collaborative partnership between the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) and Al Jalila Children’s Specialty Hospital (AJCH). It was launched during the university’s participation at Arab Health 2021.

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“This is a major development for Dubai and the UAE,” said Dr Ahmad Abou Tayoun, director of Al Jalila Children’s Genomics Center and Associate Professor of Genetics at MBRU.

Dr Tayoun said the centre would seek to engage paediatric patients with suspected hereditary disorders that usual genomic testing failed to identify. Researchers will analyse the patients’ negative genetic data for any possible novel findings.

“Ultimately, the centre’s main goal is to make novel genetic discoveries in the paediatric patient population in the UAE and the region, and leverage these discoveries to develop new diagnostic tools.”

The Centre for Genomic Discovery has already begun investigations into the cause of a genetic disease in one family within the UAE with promising progress, revealed professor Stefan Du Plessis, founding dean of research and graduate studies at MBRU and a member of the centre’s steering committee.

“At least one novel gene has been identified by whole-exome sequencing – a complex genomic test which surveys all 20,000+ human genes in search for tiny changes which might be disease causing,” explained professor Du Plessis.

Besides unravelling genetic discoveries, the centre would also be a hub for aspiring researchers and scientists.

Dr Tayoun said: “Our clinicians and researchers are experts in their respective fields who can help resolve undiagnosed patients with highly suspected inherited disorders. Furthermore, the centre will create a training and research site for masters and PhD students, as well as post-doctoral fellows at MBRU.”

Genomic testing for kids

Speaking to Khaleej Times, Dr Tayoun said the centre would raise the capabilities of UAE healthcare, particularly in tackling genetic disorders and preventive care.

“The idea is to conduct genomic testing for kids who are sick. Genetic disorders often don’t have any symptoms that are immediately visible, so it is hard to pinpoint the disease that the child is suffering from,” he said. “We conduct a series of genomic tests to look at the genes and identify changes that might explain what is causing a disease. Once we have a precise diagnosis, we are able to look at targeted therapies and treatments for the child.”

Previously, most of such testing was done outside of the UAE, but now, with the launch of the center, testing can be done locally in-house, he noted.

Another key part of the process revolves around genetic counseling, where the information is put forward in a way that the patients, their family, and the doctors understand.

Improving genetic screening

Looking ahead, Dr Tayoun said there are plans to expand the current medical service from a diagnostics standpoint to a preventive measure through screening.

Parents, especially those that have a history of genetic disorders in their family, can get tested to determine if their children will end up carrying genes that cause disorders.

“Out of 100 babies that are born, seven may end up with rare diseases, and most of these are genetic and paediatric,” he revealed.

“We want to come to a point where we can reduce this number through preventive screenings and treatment. If you have all the information about the chances of your baby being born with a rare disease, you can make a more informed decision.”

He added: “This is important for parents to be able to make an informed decision when they are thinking of starting a family. Based on what their tests are telling us, we can sit down with them and determine a preventive plan; for example, we might say that the parents have a better chance if they try IVF treatment. We want to reach a point where we are screening the population to test adults and see if they are carriers for certain mutations that might affect their offspring. The technology is revolutionary because of the value that it brings to the preventive healthcare segment.”

Nurturing the next scientists

The centre’s launch coincides with the formation of the Board of Emirati Genome Programme, headed by Sheikh Khalid bin Mohamed bin Zayed Al Nahyan, Member of the Abu Dhabi Executive Council and Chairman of Abu Dhabi Executive Office. The board will oversee and guide the implementation of the genome programme into the country’s healthcare system.

“The establishment of the Centre of Genomic Discovery through an integrated academic health system will allow us to innovate in genomics application and gene discovery. This will also enable us to realise our vision of advancing health through cutting-edge academic research and nurturing future scientists serving individuals and communities in the UAE and the region,” said Dr. Amer Sharif, vice chancellor of MBRU and member of the Board of Emirati Genome Program.

Dr Fahad Ali, assistant professor of Molecular Biology, MBRU, noted that the necessary interdisciplinary activities — including patient recruitment, genomic data analysis, and functional characterization — cannot be undertaken without the centre, its founding institutions and the interdisciplinary ecosystem they have created. “At the centre, functional experiments will be designed to characterise any novel candidate genes or mutations, to establish new gene-disease associations, and to explore potential therapeutic targets.”

The initiative is aligned with MBRU’s core goals of training and nurturing scientists and supporting research in the medical and biomedical sciences in the UAE and enhance the appeal of the newly established PhD in Biomedical Sciences — the first doctoral program at MBRU. Research carried out at the centre will be published in high profile journals. It will also raise the profile of Dubai, MBRU and Al Jalila Children’s as leading research centers at the heart of advanced medical science.

rohma@khaleejtimes.com

• Dubai