Characterizing and targeting sleep disturbances in neurodevelopmental syndromes

Thursday 22 September 2022, 12:30
PhD defence
Characterizing and targeting sleep disturbances in neurodevelopmental syndromes – insights from Drosophila
Speaker or Ph. D. student
M. Coll Tané MSc.
prof. dr. A. Schenck, prof. dr. B. Franke
Faculty of Medical Sciences

Sleep disturbances are common in individuals with neurodevelopmental disorders (NDDs), and they have severe negative effects on the people experiencing them and their families. Despite the availability of effective behavioral therapies for insomnia, these are rarely applied to individuals with NDDs due to the belief that their sleep disorders are treatment-resistant. Therefore, there is a pressing need to investigate the reversibility of sleep disturbances and to characterize their underlying (patho)mechanisms in individuals with NDDs. This thesis provides novel insight into the sleep pathophysiology of multiple NDDs taking advantage of the fruit fly. With this strategy, we provide novel evidence for the role of multiple NDD genes in sleep regulation, dissecting their cellular and temporal dynamics, and their underlying mechanisms. Despite their developmental origin, NDD-related sleep defects can be reversed in adulthood by a readily-translatable behavioral regime resembling human sleep-restriction therapy, highlighting that sleep problems are treatable.

Mireia Coll-Tané (1991) obtained her bachelor's in Biomedical Sciences at the Universitat Autònoma de Barcelona (Spain) in 2013, where she graduated among the top 15% of her cohort. That year, she moved to Nijmegen to start the masters in Molecular Mechanisms of Disease at the Radboudumc. She received an Erasmus+ traineeship grant in 2015 to perform her second master's thesis at the University of Oxford (UK), graduating that same year with cum laude. Before Mireia moved from the Netherlands to Oxford, the Radboudumc awarded her a 240,000€ personal PhD fellowship to do her doctoral studies in Prof. Schenck's lab. There, she used the fruit fly as a model to study the causes and mechanisms of sleep disturbances in monogenic neurodevelopmental disorders.

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