A recent study led by researchers at Khalifa University has identified seven novel genetic variants associated with autism spectrum disorder (ASD) in Emirati children, which could potentially inform more personalized and effective treatments and interventions for individuals with the disorder.
The research team includes Dr. Hamdan Hamdan, Assistant Professor, Khalifa University and visiting professor, Baylor College of Medicine, US, along with collaborators from Fakih-IVF Fertility Center, Abu Dhabi, and Baylor College of Medicine.
Using next-generation DNA sequencing, the team identified mutations in specific genes that play a crucial role in the development and function of neurons, providing insights into the mechanisms behind this condition. Findings were also presented at the 8th International Genetic Disorders Conference during the IFCC WorldLab 2024 in Dubai, where the team received the UAE International Genomics Award by His Excellency Sheikh Nahyan bin Mubarak Al Nahyan, UAE Minister of Tolerance and Coexistence, for fostering innovation in genetic research.
Autism is a psychological and neurological condition that affects how a person communicates, interacts, and experiences the world around them, with the global prevalence of ASD estimated at 1 in 100 children, according to the World Health Organization. In the UAE, the condition affects 1 in 146 births according to The National Institutes of Health, US. Despite statistics indicating its prevalence, research on the cause of autism spectrum disorder in the Middle East has been relatively scarce, and limited to the factors contributing to ASD within the region. Global research has so far identified many genes that have been linked to ASD, however, understanding exactly how they cause the disorder remains a challenge.
Cutting-edge gene-editing technology such as CRISPR-Cas9, and advanced protein mapping BioID technique enabled the team to shed light on the roles of novel genes and gain new insights into the causes of ASD. The findings also highlighted factors affecting epilepsy, which is part of the team’s research scope, as such conditions, including attention-deficit/hyperactivity disorder (ADHD), sleep disorders, and gastrointestinal disorders can co-occur with ASD.
Dr. Hamdan Hamdan said: “Understanding the prevalence and characteristics of ASD in the UAE is crucial for developing targeted interventions and specialized healthcare services tailored to the unique needs of this population. Disorders that co-occur with ASD can complicate diagnosis and treatment, and a comprehensive and multidisciplinary approach is also needed in order to improve diagnosis, prevention strategies, as well as specialized treatments. Many genes have been implicated in ASD phenotypes and it is important to understand their precise mechanisms.”
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