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Hanaa Banjar

 

Hanaa Banjar

King Faisal Specialist Hospital and Research Centre
Saudi Arabia

Abstract Title:Application of Cystic fibrosis (CF) gene modifiers to the CF population to improve survival and qual

Biography:

Hanaa Banjar, MD, FRCPC. King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Research Interest:

Abstract: Background: Cystic Fibrosis transmembrane regulator gene (CFTR gene modifiers) has been effective in 50-90% of the CF population in North America and Western Europe which showed marked improvement in the median survival and quality of life. Its application to the Arabian Gulf countries has not been studied due to the presence of different and Novel CFTR mutations. Objective: To determine the applications of the (CF) gene modifiers to the CFTR variants in the CF population of the Arabian Gulf countries. Results: Around 40% of the Saudi CFTR mutations will be benefit from the available Cf modifiers, 80% in Qatar, UAE in 50-70%, and in Oman in 60%. Of the CFTR mutations that will benefit from the gene modifiers in KSA according to the % affected CF population are: p.Ile1234Val (11%), F508del (11%), 711+1G>T (10%), p.His139Leu (6.4%), and p.Ser549Arg (4.5%), which constitute a total of 42%. In Qatar: p.Ile1234Val (66%), and F508del (15.6%), which constitute a total of 22%. In Oman: p.Ser549Arg (52%), and F508del (12.5%), which constitute a total of 64.5%. UAE: p.Ser549Arg (10%), and F508del (30%), and p.Ile1234Val (30%), which constitute a total of 70%. Conclusion: CFTR modifiers will improve the median survival and the quality of life of the CF population in the Arabian Gulf area similar to the western countries.