Investigation into the Mechanisms of Rare Human Neurodevelopmental and Neurodegenerative Disorders Using a Drosophila Melanogaster as a Model

Abstract: Throughout evolution, numerous biological processes have remained conserved. Insights gained from studying organisms like worms, yeast, and flies can directly inform our understanding of vertebrate and human biology. This conservation extends to several physiological pathways, including genes encoding proteins essential for synaptic transmission, action potential propagation, and other neuronal communication or muscle function forms. The use of whole-exome sequencing (WES) has dramatically enhanced the diagnosis of rare Mendelian disorders, such as intellectual disabilities. This has led to the discovery of several genes and rare variants with unknown functional impact. Drosophila melanogaster is a valuable resource for comprehending these genes and variants. Examining genes in both humans and model organisms often yields further insights into the underlying cause of a disease, thus contributing to a better understanding of pathogenic mechanisms. During my presentation, I will highlight the significance of model organisms, with a particular emphasis on Drosophila melanogaster, within human biology. Additionally, I will delve into how these organisms have played a fundamental role in advancing research on neurocognitive impairments. To further illustrate this point, I will showcase my current research on newly discovered autosomal recessive intellectual disability genes in humans, highlighting the invaluable contributions of model organisms to this field.

Speaker Biography: After completing my medical degree at Mashahd University of Medical Sciences, I pursued a specialization in medical genetics. I went on to earn a Ph.D. from the University of Social Welfare and Rehabilitation Sciences. My focus during my tenure in Iran was researching the genes contributing to human intellectual disability, and I conducted functional analysis of several novel genes. I was fortunate enough to receive a TÜBİTAK fellowship, which allowed me to become a visiting research scientist in Prof. Arzu Çelik’s laboratory at Boğaziçi University. Since 2020, I have worked as a model organism researcher in her lab and have contributed to various projects to model human neurodevelopmental disorders using Drosophila melanogaster.