Identify and validate genetic, environmental, and molecular risk factors underlying autism and syndromic neurodevelopmental disorders in the Qatari Population and the MENA Region.

This unique genetic context offers an unprecedented opportunity to identify novel disease-associated variants and enhance our understanding of the genetic architecture of ASD and syndromic NDDs. However, there is currently a limited understanding of the specific genetic basis of these disorders in the Qatari population as well as the MENA region, which hinders accurate diagnosis and the development of targeted treatment strategies. To address this critical knowledge gap, our study aims to conduct a comprehensive genetic analysis of ASD and syndromic NDDs from patients in Qatar and the MENA region, with the following objectives: 1. Identify and characterize genetic variants associated with ASD and syndromic NDDs , 2. Investigate the impact of consanguinity on the prevalence and types of genetic variants related to ASD and syndromic NDDs, particularly homozygous mutations. 3. Develop a population-specific genetic screening panel for improved diagnosis of ASD and syndromic NDDs, tailored to the unique genetic profile of the Qatari population and the MENA region. 4. Explore genotype-phenotype correlations to enhance our understanding of ASD and rare NDD manifestations in this region, considering the influence of consanguinity. 5. Conduct functional studies and in-depth characterization of suspected variants to elucidate their biological impact and potential pathogenicity. 6. Contribute to the global knowledge base of ASD and rare NDD genetics while addressing the specific healthcare needs of Qatar, potentially informing genetic counseling strategies for consanguineous families. 7. Discuss the potential for identified gene targets to advance drug development or repurposing efforts, better linking the genetic findings to clinical translation and improved ASD/NDD management.

Hamad Bin Khalifa University (HBKU)