Dubai: The UAE has launched a first-of-its-kind Centre for Genomic Discovery, which will help diagnose and treat patients with genetic disorders as well enhance local genomic research and train the country’s next generation of scientists.
“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 Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU) and member of the Board of Emirati Genome Programme.
The Centre is a collaboration between MBRU and Al Jalila Children’s Specialty Hospital (AJCH) through its Al Jalila Genomics Centre. The Centre was launched at Arab Health 2021 on Monday. The launch also coincided 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 the Abu Dhabi Executive Office, to oversee and guide the implementation of the Emirati Genome Programme in the country’s health-care system.
Investigating cause of a genetic disease
According to professor Stefan du Plessis, founding dean of Research and Graduate Studies, MBRU and a member of the Centre’s Steering Committee, the Centre for Genetic Discovery “has already begun investigations into the cause of a genetic disease in one family within the UAE with promising progress”.
The professor noted at least one novel gene has been identified by whole-exome sequencing — a complex genomic test which surveys all human genes in search for tiny changes which might be disease causing. “Functional analysis is still ongoing but preliminary data strongly suggest a role in disease. We have also identified patients outside the UAE, in the Gulf region, with the same clinical conditions, mutations and genes. 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,” he added. Whole genetic sequencing
The Centre will also “seek to engage undiagnosed paediatric 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. Researchers will then analyse the patients’ negative genetic data for any possible novel findings”, said Dr Ahmad Abou Tayoun, director, Al Jalila Children’s Genomics Center and associate professor of Genetics at MBRU.
“The new Centre 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 centre will create a training and research site for Masters and Ph.D. students, as well as postdoctoral fellows at MBRU.
“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 and uncover personalised pathways to restore ‘normal’ phenotypes in affected patients,” he added.