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Centre for Arab Genomic Studies uncover 33 new disease-causing genetic mutations related to a broad spectrum of disorders 21 October 2018
Dubai-21October 2018: A collaboration between researchers at the Centre for Arab Genomic Studies (CAGS), a division of the Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences (HMA), the genetic center “Institut Jerome Lejeune Paris” in France, and several universities and hospitals across Lebanon has resulted in the publication of a study of 213 pediatric patients who underwent genetic analysis for a range of genetic disorders including neuromuscular, cardiac, and metabolic disorders. The study was led by Professor Andre Megarbane, member of the CAGS Arab council, and clinical geneticist working in Lebanon and Paris.
 
For Lebanon, this study is important as the Catalogue of Transmission Genetics in Arabs, which is maintained by CAGS, shows that less than half of diseases reported in Lebanese patients are still lacking molecular diagnosis. DNA sequencing techniques such as the ones utilized in this study, can greatly improve genetic diagnosis in Lebanon and other countries.
 
Dr Mahmoud Taleb Al-Ali, director of CAGS, said: “The study is entitled: “Contribution of Next Generation Sequencing in pediatric practice in Lebanon. The study utilized the latest diagnostic technologies and was able to uncover 33 new disease-causing genetic mutations related to a broad spectrum of disorders”.
 
He added, “This collaboration thus highlights how valuable these tools are for an improved clinical diagnosis, and provides further evidence that the increased adoption of such techniques will significantly improve our understanding of the genetic basis of inherited diseases in Lebanon and the Arab world”.
 
On his part H.E Abdullah Bin Souqat CEO of HMA said that the Award supports the activities of the Centre for Arab Genomic Studies as part of the directives of His Highness Sheikh Hamdan bin Rashid Al Maktoum, Deputy Ruler of Dubai, Minister of Finance and Chairman of the Health Authority, patron of the Award. The Centre’s activities constitute one of the most important priorities of the award due to its importance in the field of human genetics. He also praised the role of the Center in the field of clinical and molecular genetic research, which has enabled impressive results in this field at the regional level in record time. He added, “CAGS is an important icon in defining new horizons through strengthening relationships among researchers around the world and reaching results that contribute to the advancement of health and medical sectors within the United Arab Emirates”.
 
Neurological and neuromuscular disorders were the most common categories of genetic disorders identified in the current study. In this context, it is worth mentioning that one of the focuses of the the 10th edition of the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences is on Musculoskeletal disorders. The ceremony honoring the Award winners will be held on the 12th of December, 2018 at the Dubai World Trade Center.