A study titled Burden of Mendelian Disorders in a Middle Eastern Biobank by Sidra Medicine was published in Genome Medicine journal1

Sidra Medicine, a Qatar Foundation member, conducted research on uncommon genetic illnesses in a diverse Middle Eastern cohort from Qatar, which was published in the prominent Genome Medicine journal1. The study, titled Burden of Mendelian Disorders in a Middle Eastern Biobank, gives significant insights into the distribution of risk for genetic disorders in Qatar, which will aid in public health planning for the country and the region as a whole.

The study, led by Dr Khalid Fakhro and Dr Younes Mokrab of Sidra Medicine and conducted in partnership with the Qatar Genome Programme (QGP), Qatar Biobank (QBB), and Hamad Medical Corporation (HMC), assessed over 6,000 complete genomes and corresponding health data from Qatar.

The study created a comprehensive catalogue of disease mutations stratified by genetic ancestry, including the major groups of Peninsular Arabs, General Arabs, Persian Arabs, and African Arabs, resulting in the largest collection of genomes and clinical data ever investigated in a Middle Eastern population.

The researchers discovered many harmful mutations unique to certain ancestries, known as founder mutations, which can be used as an essential epidemiological resource for healthcare policymaking. The information will also allow the healthcare system to provide screening and genetic counseling to families who may be at risk for inherited disorders. They also discovered unique disease-related genes/variants associated to common ailments in Qatar, including diabetes.