Dubai-6th july2020: A two year research collaboration between Centre for Arab Genomic Studies (CAGS), a division of the Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences (HMA), the Institut Jerome Lejeune Paris in France, and several universities and hospitals across Lebanon has led to the publication of 10 research articles up until June 2020 in various international peer-reviewed PubMed-indexed journals.
In these various studies, CAGS partnered with Professor Andre Megarbane, member of the centre’s Arab Council, and clinical geneticists working in Lebanon and France.
Dr Mahmoud Taleb Al Ali, the Centre’s Director said: “This ongoing joint research project started in early 2018 and has since identified 61 genetic variants pertaining to different diseases in 270 Arab patients. These published papers bring the total of research articles published by CAGS to date to 38. This includes a study of 213 pediatric patients in Lebanon who underwent genetic analysis for a range of genetic disorders including neuromuscular, cardiac, and metabolic disorders. “
The most recent of these papers has uncovered a newly described syndrome in a multiply consanguineous family. This novel syndrome was diagnosed in five young patients exhibiting intellectual disability, hearing impairment, developmental delay, and distinctive facial features.
Prof. Megabane explained that in collaboration with researchers from Marseille University, France and Bellevue Hospital, Lebanon two patients from a family exhibiting a Marfanoid-type syndrome with severe herniation in association with a novel homozygous mutation in a connective tissue gene were described. The article was published in the European Journal of Medical Genetics.
Another significant study was the identification of a new variant in the MED25 gene in two apparently unrelated Lebanese families affected with a developmental delay syndrome. This finding raises the possibility of this condition being underdiagnosed in this population, further cementing the need for molecular diagnosis of such cases.
Dr Stephany El-Hayek, Assistant Director of CAGS who continues to oversee this research collaboration, said: “Only about a half of diseases reported in Lebanese patients in our Catalogue of Transmission Genetics in Arabs (CTGA) Database have a molecular diagnosis. With this valuable collaboration, where we have used emerging technologies, such as Next Generation Sequencing, we have been able to show that DNA sequencing techniques such as the ones utilized in this study, can greatly improve genetic diagnoses. This is especially relevant for resource-strapped countries like Lebanon, which also have relatively high levels of consanguinity.”
CAGS continues to collaborate with researchers and physicians in further attempts to delineate the molecular basis of genetic disorders in the Arab World.
