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.
