Genome sequencing efforts around the world have made great progress, but despite this, the functions of most genetic variants and their effects on human health and disease are still not fully understood.
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In an attempt to bridge this gap, genetic research has made great strides in studying some population groups, but Arab and Middle Eastern populations remain underrepresented in global databases and studies, given the limited number of studies addressing their genetic diversity and the broad biological effects of high rates of consanguineous marriage.
Regarding this atlas and the prospects it may offer for precision medicine in the region, Al Jazeera Net interviews Professor Younes Mekrab, head of the Genomic and Biomedical Informatics Laboratory at Sidra Medicine, director of the Neuroscience Research Program, and principal investigator of this project.
Knowing the genetic code is like having the text of a book without understanding its meanings. Therefore, the scientific challenge imposed on us today is to move from reading the letters of the genome to understanding its language, so that this helps us understand how differences in this code affect gene activity and human health.
This knowledge gap is even greater among Middle Eastern populations, as they are underrepresented in global genomic studies, most of which rely on populations of European origin.
Hence the importance of creating the first large-scale atlas of its kind in the region, linking genetic variants to the genes that influence their activity, and then to the associated health and clinical traits, using advanced analyses that provide evidence of potential causal relationships. We identified approximately 30,000 high-confidence regulatory signals, along with more than 1,300 genes whose relationship to genetic regulation was not described in the previous literature with which we compared our results.
Another key addition of the study is the investment in the genetic characteristics of the region’s population, so that regulatory effects that are difficult to detect in other societies can be revealed, especially those resulting from the inheritance of two identical copies of genetic variants. This phenomenon is of particular importance in societies where consanguineous marriage rates are high.
Thus, our study not only fills a knowledge gap concerning the population of the Middle East, but also extends to providing new discoveries that help to understand the genetic mechanisms of diseases, and lays a scientific basis for the development of precision medicine that suits the genetic diversity of the region’s population.
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