Dr. Hamdi Mbarek
Doha, Qatar: To achieve greater representation in the global genome map, Qatar Genome programme is establishing large-scale genomic databases which will ultimately enhance global genetic diversity and foster a deeper understanding of prevalent diseases in different regions and paving way for precision medicine.
Since its inception in 2015, Qatar Genome, a member of Qatar Foundation has played a vital role in the field by conducting approximately 40,000 genetic sequences of individuals from Qatar and residents of Arab descent. Successful awareness campaigns have increased participation, helping the community understand the importance of involvement. However, obtaining additional samples is crucial to ensure even more accurate outcomes.
Dr. Hamdi Mbarek, the Scientific Partnerships Manager at Qatar Genome said: “Understanding Arab genomics can help to identify genetic variations and factors that contribute to the spread of diseases prevalent in Arab societies. And this understanding is vital because it helps identify and treat genetic predisposition to these diseases, which may be unique to the region due to some social customs, such as consanguineous marriage,” he said. “Scientific research plays a crucial role in understanding genetic diseases, which are often identified through genetic diagnosis. This process is essential because without it doctors will not be able to provide effective treatments,” he added.
The term “genome” describes an individual’s set of genes and their interactions with each other and with the environment. This relatively modern term aids in the scientific study of complex diseases such as heart disease, diabetes, and cancer, which are typically caused by a combination of environmental genetic factors — as opposed to hereditary diseases that result from a single genetic abnormality.
Asked if the occurrence of specific diseases are unavoidable for individuals with a genetic predisposition, or can they be prevented, Dr. Mbarek said, “A healthy lifestyle is crucial to preventing diseases such as cancer, heart disease, or diabetes, even for those with a genetic predisposition. Although we cannot change our genetic structure, we can influence our health outcomes through a healthy environment, diet, and regular exercise.” Recently, Dr. Mbarek showcased Qatar Genome’s work at the annual meeting of the American Society for Human Genetics in Washington. With a focus on globalizing human genetic studies, Dr. Mbarek presented three research projects from the Qatar Genome Program Research Consortium.
“The globalization of human genetic studies helps us discover a wider range of genetic data and how they affect diseases, thus contributing to the discovery and development of treatments for genetic diseases for all of humanity,” Dr. Mbarek said.
Qatar also participated in the International Alliance to Study the Genetics of the COVID-19 Pandemic in 2020. This alliance, which consists of more than thirty countries, aims to understand the genetic factors that affect susceptibility to infection with COVID-19, and Qatar was one of the first Arab countries to join this effort, contributing to the discovery of 51 genes related to the disease.
“The results reveal that two of these genes, which are not prevalent in European genomes, would have remained undiscovered had it not been for Qatar’s participation. This underscores the importance of including diverse genetic data in research, as some genetic variants are more common in specific populations and could provide crucial insights into disease susceptibility and resistance,” Dr. Mbarek said.
Qatar Genome is a pioneer in the Middle East region, as it is equipped with the necessary infrastructure for genome sequencing and analysis. This willingness allowed Qatar to contribute to the first set of results issued by the international coalition in 2021, and subsequent iterations of the study welcomed participation from other Arab nations like Egypt, Jordan, and Saudi Arabia, enriching the data with their distinctive genomic profiles.
Dr. Mbarek emphasised the importance Qatar Genome places on collaborations and said, “Qatar plays a pioneering role in this field and is ready to help other countries develop genetic research. Sharing large data sets is essential for a more comprehensive understanding of genetic variants, especially those that are unique to Arab societies and that may be less prevalent in other regions.”
