Research findings provide key insights into the genetic basis of ASD in Oman

Qatar Biomedical Research Institute’s (QBRI) Neurological Disorders Research Center (NDRC) has collaborated with Oman’s Sultan Qaboos University (SQU) on a study casting new light on the genetic landscape of autism spectrum disorder (ASD).
Published in the International Journal of Molecular Sciences, the study “Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman” focuses on genome sequencing performed on mothers, fathers, and affected individuals in Oman. The study was a perfect example of collaborative work where the SQU team recruited all the study-participants and performed their clinical phenotyping while QBRI, in collaboration with Qatar Precision Health Institute (QPHI), determined the complete DNA sequences of the families’ genomes. The final analysis by the QBRI research team enabled the identification of 48 novel candidate genes significantly associated with ASD in the Omani cohort. Additionally, 35 genes had previously been implicated in neurodevelopmental disorders (NDDs) in other populations. The findings further highlight the conserved genetic basis of ASD across different ethnicities.
Commenting on the study, Dr. Omar Albagha, Acting Executive Director, QBRI, stated: “There are limited genetic studies of ASD focused on the Arabian Peninsula which has hindered our understanding of the regional genetic landscape of this disorder. Our collaboration with colleagues at SQU aims to address this gap while advancing our knowledge of the genetic architecture of this disorder in Oman. We are grateful for the opportunity to work with them and look forward to future collaborations.”
Echoing this sentiment, Dr. Watfa Al-Mamari, Senior Consultant, SQU, added: "Our longstanding partnership with QBRI represents a significant step forward in autism research in the region. By combining our expertise, we can gain deeper insights into the genetic factors influencing ASD and work toward more tailored interventions. We are excited about the findings and the continued impact of this collaboration."
The lead author of the study was Dr. Vijay Gupta, a Research Fellow at NDRC, QBRI. Dr. Lawrence W. Stanton, former Director of NDRC at QBRI, and Dr. Watfa Al-Mamari from SQU, Oman, managed the project.
“Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman” can be accessed here.