Sidra Medicine leads largest research on rare genetic disease risk in Middle East

Doha, Qatar: A study by Sidra Medicine, a member of Qatar Foundation, on rare genetic diseases in a wide ranging and diverse Middle Eastern cohort fro...

Doha, Qatar:  A study by Sidra Medicine, a member of Qatar Foundation, on rare genetic diseases in a wide-ranging and diverse Middle Eastern cohort from Qatar, has been published in the prestigious Genome Medicine journal1.

Titled Burden of Mendelian Disorders in a Middle Eastern Biobank, the study provides key insights into the distribution of risk for genetic diseases in Qatar, which will help with public health planning for the country’s population and that of the wider region.

Led by Dr Khalid Fakhro and Dr Younes Mokrab from Sidra Medicine and in collaboration with the Qatar Genome Programme (QGP), Qatar Biobank (QBB), and Hamad Medical Corporation (HMC) the study analyzed more than 6,000 whole genomes and corresponding health data from Qatar.

Dr Khalid Fakhro, Chief Research Officer at Sidra Medicine and principal investigator of the study, said: “Collectively rare diseases impact up to 5.9 per cent of the world’s population, and many of these remain under-studied and lack effective treatments. In addition, rare diseases are elevated across the MENA and GCC populations, and studies like this help us understand the genetic architecture driving these conditions, which speeds up diagnosis times and allows us to explore avenues for personalized therapies in the future.”

The study established a comprehensive catalogue of disease mutations stratified by genetic ancestries, including the major groups of Peninsular Arabs, General Arabs, Persian Arabs and African Arabs; making it the largest such collection of genomes and clinical data to be investigated in a Middle Eastern population to date.