Largest research on rare genetic disease risk in Middle East led by Sidra Medicine

The groundbreaking study conducted by Sidra Medicine in Qatar has shed light on the prevalence of rare genetic diseases in the Middle Eastern population, particularly in Qatar. Published in the esteemed Genome Medicine journal, the study titled Burden of Mendelian Disorders in a Middle Eastern Biobank has provided crucial insights into the distribution of genetic disease risk in the region.

Led by Dr. Khalid Fakhro and Dr. Younes Mokrab, the study analyzed over 6,000 whole genomes and corresponding health data from Qatar, making it the largest collection of genomes and clinical data to be investigated in a Middle Eastern population to date. The researchers focused on genetic ancestries, including Peninsular Arabs, General Arabs, Persian Arabs, and African Arabs, to identify specific disease mutations and founder mutations that are unique to certain populations.

Dr. Fakhro, Chief Research Officer at Sidra Medicine, emphasized the importance of studying rare genetic diseases, which impact up to 5.9% of the global population. He highlighted the need for personalized therapies and faster diagnosis times, especially in the MENA and GCC populations where rare diseases are elevated.

Co-first authors Dr. Waleed Aamer and Dr. Aljazi Al-Maraghi noted that the study provided a comprehensive assessment of genetic diseases among the Qatari population, including the impact of consanguinity on the risk of genetic diseases. The researchers also identified novel disease-related genes and variants linked to common diseases in Qatar, such as diabetes.

Dr. Mokrab, A/Director of Population and Genomics Medicine, highlighted the challenges of studying rare diseases in Middle Eastern populations due to their high level of diversity. However, by analyzing genetic variation patterns, the researchers were able to identify clusters of sub-populations with common ancestry, allowing for actionable findings that can benefit millions of people in the region and beyond.

Dr. Hamdi Mbarek, Manager of Qatar Genome Research Consortium, emphasized the importance of genetic insights in informing tailored therapies and effective public health planning, not only for Qatar but also for the wider region. The study’s establishment of a catalogue of Mendelian genetic variants can also improve the annotation of global public genetics databases, particularly for variants common in the Qatari population.

Overall, the study by Sidra Medicine and its collaborators has provided a significant contribution to the understanding of rare genetic diseases in the Middle Eastern population. By identifying specific disease mutations, founder mutations, and novel disease-related genes, the researchers have paved the way for improved screening, genetic counseling, and personalized therapies for individuals at risk of inherited diseases. This research has the potential to impact public health planning and policy-making in Qatar and the wider region, ultimately leading to better healthcare outcomes for populations with a high prevalence of rare genetic diseases.