Dubai: A new research paper has identified 1,365 gene mutations among Emiratis, close to a fifth of which have not been reported in international genetic databases.
The research paper has been published by Dubai-based Centre for Arab Genomic Studies (CAGS), a sub-centre of the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences.
The paper details the spectrum of genetic disorders and gene variants reported in the UAE national population. According to CAGS, this research paper constitutes the first review and analysis of all genetic disorders and gene variants reported in Emiratis and hosted on the Catalogue for Transmission Genetics in Arabs (CTGA) database.
The CTGA is an open-access database hosting bibliographic data on human gene variants associated with inherited or heritable phenotypes in Arabs. As many as 11,875 Emiratis’ clinical and genetic data are now available on CTGA.
The centre identified 491 rare genetic disorders in the Emirati population in the country. It also found that there are 10 diseases unique to Emiratis globally.
Dr Mahmoud Taleb Al Ali, director of CAGS, said: “To date, CTGA hosts 665 distinct genetic conditions that have been described in Emiratis; 621 of which follow a purely genetic transmission.”
Strikingly, he said, over half of these are extremely rare according to global prevalence rates.
“These 665 conditions include disorders that are unique to the Emirati population, as well as some disorders in which the causal gene remains unidentified,” he said.
Remarkably, the Centre found major differences in the classification of the clinical significance of these mutations between those reported by CTGA compared to that of other international databases. For example, it said some mutations classified in CTGA as disease-causing in the UAE population are labelled as harmless in the international genetic database Clinvar.
Abdallah Bin Souqat, executive director of the Award, stressed on the importance of ethnic databases such as CTGA in addressing the under-representation of Arab variant data in international databases and documenting population-specific discrepancies in variant interpretation. He reiterated the value of such repositories for clinicians and researchers, especially when dealing with rare disorders.
He highlighted that it is worth noting that of the 665 genetic disorders reported, 491 are classified as rare diseases.
The report was revealed earlier this month, soon after the World Rare Disease Day. Research into rare diseases has rapidly progressed since the advent of next generation gene-sequencing technology, leading to a big increase in the number of reported rare diseases, and providing many patients with much-needed answers about their diagnoses.
“Research is thus the main driver accelerating and improving diagnoses and potential therapies. And the first step towards this is the sharing of molecular and clinical data that are of paramount importance, especially in the field of rare disease,” CAGS pointed out.
It said this is the approach taken by the centre since it was established by the late Sheikh Hamdan bin Rashid Al Maktoum in 2003 to support patients with genetic disorders by collecting and sharing research and clinical results to facilitate the research process for researchers and specialists in this field.