News & Press releases

CAGS Reports on the Spectrum of Genetic Disorders and Gene Variants in ‎the Emirati Population
The Centre for Arab Genomic Studies (CAGS), a sub-‎centre of the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical ‎Sciences has published a research paper detailing the spectrum of genetic ‎disorders and gene variants reported in the UAE national population. The ‎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, an open-access database ‎hosting bibliographic data on human gene variants associated with inherited or ‎heritable phenotypes in Arabs.‎
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, over half of these are ‎extremely rare according to global prevalence rates, and require faulty genes ‎from both parents to take effect. 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 added.‎
The paper also describes 1,365 gene mutations reported in Emiratis, over half ‎of which are classified as disease causing, and close to a fifth have not been ‎reported in international genetic databases. 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, some mutations classified in CTGA as ‎disease-causing in the UAE population are labelled as harmless in the ‎international genetic database Clinvar.‎
For his part H.E Abdallah Bin Souqat, Executive Director of the Award ‎stressed on the importance of ethnic databases such as CTGA in addressing ‎the underrepresentation of Arab variant data in international databases and ‎documenting population-specific discrepancies in variant interpretation, ‎reiterating the value of such repositories for clinicians and researchers, ‎especially when dealing with rare disorders. ‎
It is worth noting that of the 665 genetic disorders reported, 491 are classified ‎as rare diseases. The European Organization for Rare Diseases has designated ‎February 28th of each year as World Rare Disease Day, in order to highlight the ‎situation of individuals suffering directly or indirectly from the consequences ‎of these diseases which collectively affect over 300 million people around the ‎world.‎
Research into rare disease has rapidly progressed since the advent of next ‎generation 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. This is the approach taken ‎by the Center 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.‎
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