A new “first of its kind” institution aimed at enhancing local genomic research – as well as diagnosing and treating patients with genetic disorders – has been unveiled in the United Arab Emirates (UAE).

The Center for Genomic Discovery is a joint venture between the Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) and the Al Jalila Genomics Center of the Al Jalila Children’s Specialty Hospital (AJCH). 

“The necessary interdisciplinary activities – including patient recruitment, genomic data analysis, and functional characterisation – cannot be undertaken without the Center, its founding institutions, and the interdisciplinary ecosystem they have created,” said Fahad Ali, Assistant Professor of Molecular Biology at MBRU. “At the Center, 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.”

And work has already started with one family, offering “promising progress,” said Stefan Du Plessis, founding Dean of Research and Graduate Studies at MBRU and a member of the Center’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,” he said. “Functional analysis is still ongoing but preliminary data strongly suggests a role in disease. We have also identified patients outside the UAE, in the Gulf region, with the same clinical conditions, mutations and gene. 

“We are now establishing collaborations with researchers from those sites to characterise this gene. The fact that patients from different backgrounds with similar clinical features have mutations in the same gene further establishes a potential new gene-disease discovery.”

WHY IT MATTERS

Speaking at Arab Health 2021, Amer Sharif, Vice Chancellor of MBRU, described the formation of the centre as a “major milestone” for healthcare research in the UAE.

“These are life-changing outcomes that underline the power of research and the role of MBRU and our academic health system partners as research-intensive institutes,” he said. “The establishment of the Center 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.”

The Center for Genomic Discovery will reportedly “seek to engage undiagnosed pediatric patients with suspected hereditary disorders whose clinical genomic testing at Al Jalila Children’s – such as whole-exome sequencing and chromosomal microarrays – failed to identify any definitive genetic causes.”

THE LARGER CONTEXT

The launch of the centre coincides with the formation of the board of the Emirati Genome Program, whose mission is to provide preventive and personalised healthcare for the Emirati population. 

Headed by His Highness Sheikh Khalid bin Mohamed bin Zayed Al Nahyan, Member of the Abu Dhabi Executive Council and Chairman of the Abu Dhabi Executive Office, the Emirati Genome Program is reportedly being designed to enable “precise and customised medical treatment that will support a more robust healthcare system in the UAE.”

MBRU’s Sharif is a member of the board.

Meanwhile, AJCSH has also announced it is to formulate a steering group to study the workflow of genome sequencing in an intensive care setting. The hospital has partnered with Illumina Netherlands BV to develop this practical knowledge – improving the use of testing, and fostering greater understanding of best-use cases, clinical indicators and the health economics of genome sequencing in this specialised setting.

“There is increasing evidence for rapid, efficient and cost-efficient genome sequencing in newborns and babies that will save lives,” said Mohamed Al Awadhi, COO of AJCH. “The application of next-generation sequencing has revolutionised the process of making complex diagnoses in paediatric medicine, significantly shortening the time for accurate diagnosis and optimal clinical management in critically ill children.

“Thanks to the support of our partners and stakeholders, this working group will once again push the boundaries in the quest to save young lives.”

ON THE RECORD

“This is a major development for Dubai and the UAE,” said Ahmad Abou Tayoun, Director of Al Jalila Children’s Genomics Center and Associate Professor of Genetics at MBRU. “The new Center leverages the clinical, genomics, and functional research infrastructure and human resources at Al Jalila Children’s and MBRU to propel interdisciplinary activities. 

“Our clinicians and researchers are experts in their respective fields who can help resolve undiagnosed patients with highly suspected inherited disorders. Furthermore, the Center will create a training and research site for Masters and Ph.D. students, as well as post-doctoral fellows at MBRU.”

He added: “Ultimately, the Center’s main goal is to make novel genetic discoveries in the pediatric patient population in the UAE and the region, and leverage these discoveries to develop new diagnostic tools and uncover personalised pathways to restore ‘normal’ phenotypes in affected patients.”