Groundbreaking Arab Middle Eastern Genetics Study on Autism Goes Global

Dr. Madeeha Kamal, Sr. Attending Pediatrician at Sidra Medicine (left), and Dr. Khalid Fakhro, Chief Research Officer at Sidra Medicine.

Sidra Medicine, a member of Qatar Foundation, commemorates World Autism Awareness Day by highlighting the significant impact of its long-standing initiative, the BARAKA-Qatar study. This study, known as Building a Resource for the Advancement of Knowledge of Autism in Qatar, has been a pioneering force in Autism Spectrum Disorder (ASD) research in the region for several years. Its pilot phase was published in the esteemed Genome Medicine journal, solidifying its importance in advancing our understanding of ASD, particularly within the Arab world, and bringing Middle Eastern genetics to the forefront of global ASD research.

ASD is characterized by a complex set of neurodevelopmental challenges affecting social interaction, communication, and behavior. Despite its prevalence worldwide, knowledge of ASD's genetic origins in the Arab world has been historically limited. The BARAKA study, spearheaded by Sidra Medicine in Qatar, has broken through these limitations by focusing on Middle Eastern genetics and their implications for ASD.

Dr. Khalid Fakhro, Chief Research Officer at Sidra Medicine, emphasized the significance of the BARAKA study, stating that it has elevated ASD research from the Gulf Cooperation Council (GCC) countries to the global stage. Through years of meticulous clinical-research partnership, the study's findings have not only enhanced our understanding of ASD genetics within Middle Eastern populations but have also provided invaluable insights to the broader ASD scientific community worldwide.

The BARAKA study was conducted through an academic collaboration with the Hospital for Sick Children (SickKids) in Toronto, Canada. This collaboration facilitated the accessibility and comprehensibility of Middle Eastern genetics on an international scale. SickKids's partnership with the Autism Speaks' MSSNG Whole Genome Sequencing Project (MSSNG), an open-science collaboration platform between Autism Speaks, Google, and the research community, played a crucial role in enabling this global outreach and knowledge exchange.

Dr. Fakhro highlighted that approximately 350 families, totaling around 1,500 participants, have been enrolled in the BARAKA study from Qatar. He emphasized the collaborative efforts with SickKids and MSSNG, which have enabled the study to adhere to international standards and benefit from shared models and analysis pipelines. Through this collaboration, trainees and sub-projects have received joint mentorship, contributing to the study's success and ongoing expansion. Increasing the cohort's size is a priority to capture more individuals living with ASD in Qatar, facilitating a better understanding of underlying causes and the development of personalized interventions in the future.

Dr. Madeeha Kamal, Sr. Attending Pediatrician at Sidra Medicine, emphasized the importance of understanding specific mutations associated with autism, which provides insights into the variations among affected children. The BARAKA study identified more mutations than any other research globally, enhancing understanding of each patient's condition and paving the way for tailored interventions. Dr. Kamal stressed the significance of enrolling more families into the study and highlighted the goal of finding suitable medications targeting each patient's unique mutation, leveraging this valuable information to establish links between patients and the disease.

Dr. Stephen Scherer, Chief of Research at SickKids, underscored the importance of international research collaborations in comprehensively understanding ASD. Collecting data from diverse populations worldwide is essential to unraveling the genomic architecture underlying autism.

In addition to the BARAKA study, Sidra Medicine contributes significantly to Qatar's efforts in supporting ASD. H H Sheikha Moza bint Nasser's advocacy for World Autism Awareness Day during the 62nd UN General Assembly in 2007 elevated Qatar's global impact on ASD awareness. Qatar has also implemented the National Autism Plan (2017/2022) to enhance the lives of individuals with ASD and their families, addressing educational, healthcare, early intervention, and infrastructure needs, aligning with broader national development goals.
 

 

Source: The Peninsula