First Arab Middle Eastern Genetics Research in Autism Going Global


Thanks to Qatar’s Sidra Medicine, we now have a better understanding of Middle Eastern Genetics and their Implications for ASD    

1 April 2024, Doha, Qatar – On World Autism Awareness Day, Sidra Medicine, a member of Qatar Foundation, celebrates the profound impact of its long-standing initiative, the BARAKA-Qatar study1 (Building a Resource for the Advancement of Knowledge of Autism in Qatar). The study, which has been at the forefront of Autism Spectrum Disorder (ASD) research in the region for several years and published its pilot phase in the prestigious Genome Medicine journal, has not only enhanced our understanding of ASD within the Arab world but has also pushed Middle Eastern genetics onto the global stage.

ASD presents a complex array of neurodevelopmental challenges affecting social interaction, communication, and behavior. Despite its global prevalence, our comprehension of ASD's genetic origins in the Arab world is historically limited. The BARAKA study, conceived and conducted by Sidra Medicine in Qatar, shattered these boundaries, focusing on Middle Eastern genetics and their implications for ASD.


Dr. Khalid Fakhro, Chief Research Officer at Sidra Medicine said: “The BARAKA study significantly elevates ASD research from the Gulf Cooperation Council (GCC) countries to the global stage. Its findings, derived from years of meticulous clinical-research partnership, have not only improved our understanding of ASD genetics within Middle Eastern populations, but have also contributed invaluable insights to the wider ASD scientific community around the world.”

Conducted in an academic collaboration with the Hospital for Sick Children (SickKids) in Toronto, Canada, the study renders Middle Eastern genetics accessible and comprehensible on an international scale. This was made possible through SickKids’s partnership with the Autism Speaks’ MSSNG Whole Genome Sequencing Project (MSSNG), an innovative open-science based collaboration platform between Autism Speaks, Google, and the research community.

Dr. Fakhro also mentioned that around 350 families, totaling approximately 1,500 participants, have been enrolled from Qatar. He added, "Our collaboration with SickKids and MSSNG have assisted us in designing the BARAKA study to international standards, using shared models and analysis pipelines across our respective groups. Over the years, we have ensured that a number of trainees and sub-projects benefited from this joint mentorship. We continue to increase the size of our cohort to capture more individuals living with ASD in Qatar, which will aid in understanding underlying causes and development of personalized interventions in the future.”


Dr. Madeeha Kamal, Sr. Attending Pediatrician at Sidra Medicine, whose clinic worked closely with the families on the Baraka study, stated: “Understanding that there are specific mutations associated with autism allows us to gain a deeper view of the variations among children with this condition. Some children are high-functioning, while others are low-functioning. We found more mutations in our study than any other research conducted globally which will aid us in learning more about each individual patient.”

“As we progress with this important work, we continue to welcome the enrollment of families into this extensive cohort study. The next step in our journey is to find suitable medication that targets each patient's unique mutation, using the valuable information these mutations provide about the link between the patient and the disease,” continued Dr. Kamal.

Dr. Stephen Scherer, Chief of Research at SickKids said: “International research collaborations are essential to building a more fulsome picture of ASD. Only by collecting more data, from people all over the world, can we more completely understand the genomic architecture underpinning autism.”

In addition to the BARAKA study, Sidra Medicine plays a key role in Qatar's efforts for ASD support. Qatar's global impact on ASD awareness was significant when Her Highness Sheikha Moza bint Nasser advocated for World Autism Awareness Day during the 62nd UN General Assembly in 2007, gaining widespread approval from all UN members.

Furthermore, Qatar has implemented the National Autism Plan (2017/2022) to enhance the lives of individuals with ASD and their families. This comprehensive plan addresses educational and healthcare needs, early intervention strategies, infrastructure enhancements, and continuous support, aligning with Qatar's broader national development goals.