This research team focuses on uncovering the complex genomics of neurodevelopmental disorders and autism, with a particular emphasis on the Qatari population. By studying the genomics and connecting them to multi-omics data using bioinformatic, statistical modelling, and AI across population-based datasets, the team aims to identify risk variants and understand their contribution to the trait variability.

The team extends these findings through a translational framework, investigating the functional effects of prioritized variants in cellular models using multi-omics and computational approaches for a small number of samples. This work links genetic discovery to biological mechanisms and clinical relevance, supporting precision medicine in neurodevelopmental disorders.

Research Team

Dr. Jouke-Jan Hottenga

Senior Scientist

Qatar Biomedical Research Institute

Dr. Afif Ben Mahmoud

Senior Research Associate

Qatar Biomedical Research Institute

Dr. Vijay Gupta

Postdoctoral Researcher

Qatar Biomedical Research Institute

Omnya Abdalla

PhD Student

Current Projects

Studying the genetic landscape of autism in Qatar.

A cell line multi-omics AI-based approach to screen for the effects of a Qatari RGS4 gene mutation on G protein stabilization in autism.

Integrated multi-omics models to uncover molecular mechanisms and biomarkers in autism.

Latest Publications

Ncir, W. B., Ben-Mahmoud, A., Frikha, H., Hottenga, J. J., Abdelhedi, F., Kacem, F. H., et al. (2026). First LDLRAP1 and recurrent LDLR mutations in Tunisian families with familial hypercholesterolemia. Journal of Cellular and Molecular Medicine, 30(1), e70997.
Grotzinger, A. D., Werme, J., Peyrot, W. J., Hottenga, J. J., Frei, O., de Leeuw, C., et al. (2026). Mapping the genetic landscape across 14 psychiatric disorders. Nature, 649(8096), 406–415.
van der Laan, C. M., Ip, H. F., Schipper, M., Hottenga, J. J., St Pourcain, B., Zayats, T., et al. (2025). Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes. Nature Genetics, 57(10), 2427–2435.
Assary, E., Coleman, J. R. I., Hemani, G., Hottenga, J. J., van de Weijer, M. P., Howe, L. J., et al. (2025). Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes. Nature Human Behaviour, 9(8), 1683–1696.
Gui, A., Hollowell, A., Wigdor, E. M., Hottenga, J. J., Morgan, M. J., Hannigan, L. J., et al. (2025). Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants. Nature Human Behaviour, 9(7), 1470–1487.
Hagenbeek, F. A., Pool, R., van Asselt, A. J., Hottenga, J. J., Ehli, E. A., Smit, A. B., et al. (2025). Intergenerational transmission of complex traits and the offspring methylome. Molecular Psychiatry, 30(7), 3338–3347.
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Hottenga, J. J., et al. (2025). Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. Cell, 188(3), 640–652.e9.
Gupta, V., Ben-Mahmoud, A., Idris, A. B., Hottenga, J. J., Habbab, W., Alsayegh, A., et al. (2024). Genetic variant analyses identify novel candidate autism risk genes from a highly consanguineous cohort of 104 families from Oman. International Journal of Molecular Sciences, 25(24), 13700.