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Funded and supported by Hamdan Medical Award: Research project identifies two new mutations responsible for hearing loss 14 July 2020
Dubai-14th July2020: The Medical Research Support Center, a division of the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, has announced the identification of new mutations in two genes causing hearing loss in two Emirati families.
The finding comes from the results of a research project funded in the 9th Medical Research Grant term and was carried out by Dr. Abdulaziz Al-Talili from the University of Sharjah. The results of the study were published in the second issue of Hamdan Medical Journal for 2020.
Dr. Abdulaziz Al-Tlili thanked the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences and the members of the scientific committees for choosing his project proposal for the Grant. He emphasized that the aim of this project was to identify the responsible mutations in two different UAE families affected with hearing loss. The methodology involved collecting saliva samples from the family members, an additional 107 patients with hearing loss, as well as from 100 healthy individuals from the population. The samples were analysed using the whole exome sequencing technique and the data was subjected to bioinformatic analysis. The analysis allowed the research team to identify novel mutation in the ESRRB and ESPN genes in the affected Emirati families. 
“This is the first time that causal mutations in these two genes have been identified in patients with hearing loss in the Middle Eastern population. It is expected that the results of this research will open new research horizons that will positively affect patients with genetic deafness”, he added.
Prof. Sehamuddin Galadari, the Chairman of the Award’s Medical Research Grant Committee extended his sincere thanks and gratitude to His Highness Sheikh Hamdan bin Rashid Al Maktoum, Deputy Ruler of Dubai and Minister of Finance, for his continuous support of science in general and scientific research in particular. He also appreciated His Highness’ efforts in constantly following-up with all the activities of the Award, providing optimal support to the medical sector and supporting researchers with material and scientific resources to conduct research.
He also stressed the importance of this research, as hereditary hearing loss is one of the most prevalent congenital diseases in the world, affecting one out of every 1,000 newborns. The medical and psychological effects of hearing impairment have a negative impact on the affected individuals and the society as a whole. Therefore, understanding and knowing the genetic causes of deafness has crucial benefits, as this knowledge allows doctors to perform genetic counseling, and decide on specific treatment modalities for affected individuals.
For his part, Mr. Abdullah bin Souqat, Executive Director of the Hamdan Bin Rashid Award for Medical Sciences, praised the efforts of the Research Support Center over the past 20 years. He also expressed his happiness with the results of the research, which will contribute greatly to curbing the spread of genetic diseases, provided necessary measures, such as pre-marital screening and counseling, are implemented.