I am a medical doctor with an interest in psychiatric genetics, particularly, the role that neurodevelopmental CNVs (NDD-CNVs) play in the aetiology of autism spectrum disorder (ASD).
NDD-CNVs are considered one of the strongest genetic factors contributing to autism susceptibility since they have been identified in 3% and 11% of individuals with sporadic and multiplex autism respectively. Around 40 CNVs are reported to be associated with autism including 22q11.2 deletion and duplication, 16p11.2 deletion and duplication, and 1q21.1 deletion and duplication.
My research aims at characterizing autism profile across different NDD-CNV carriers in order to identify any genotype-phenotype association.
- MBBS University of Khartoum, Faculty of Medicine.
- MSc Medical Biochemistry, University of Khartoum, Faculty of Medicine.
- Diploma of Research Methodology and medical ethics Al-Neelain University Faculty of Medicine.
- MSc Molecular Medicine The University of Sheffield.
The etiology of autism spectrum disorder traits in children with high-risk genomic deletions or duplications
Autism Spectrum Disorder (ASD) is a lifelong neuropsychiatric condition which is apparent since early development and characterized by impairments in three separate domains: social interaction, social communication and repetitive and restricted behaviours. Affecting ~1% of the world population, the prevalence is reported to be increasing. The presentation varies from one patient to another, with some experiencing more problems in specific domains than others.
ASD is highly heritable (heritability ~90%), however, a wide range of underlying genetic causes have been identified. As a consequence, samples recruited because of their ASD diagnosis are highly heterogeneous in terms of genetic aetiology. The recent discovery that rare pathogenic variants in the genome (Copy number variants (CNVs); microscopic deletions or duplications) greatly increase risk of ASD offers important new opportunities for understanding the genetic aetiology. Around 5–10% of patients with ASD have one of these CNVs and furthermore studies of individuals with CNVs have reported they are at high risk of ASD.
However, there is a dearth of understanding of the presentation of ASD in high-risk CNV carriers. It is unclear whether the presentation differs from ASD in individuals without a high-risk CNV (idiopathic ASD). Furthermore, it is not known whether the presentation of ASD differs for individuals with different high-risk CNVs.
The project objectives are to improve insights into genotype-ASD associations by conducting detailed comparisons of ASD symptomatology as well as traits frequently co-occurring with ASD between 1) CNV carriers with ASD and individuals with idiopathic ASD; 2) individuals with ASD with different high-risk CNVs.
Vice Chancellor scholarship