Looking at neurodevelopmental disorders through the lens of evolution: a role for autophagy
- Health and well-being
- Event date:
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- Time:
- 15:00–16:00
- Event location:
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Kuopio campus, Bioteknia 1 building, room 3208
- Additional information:
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Neulaniementie 2
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Frontiers in Health Sciences is a seminar series organized by the doctoral programmes of Faculty of Health Sciences and it is targeted to researchers, teachers, and students.
Frontiers in Health Sciences seminar series continues with a lecture by Professor Nael Nadif Kasri, Radboud University, with the title: Looking at neurodevelopmental disorders through the lens of evolution: a role for autophagy.
Neoteny, the retention of juvenile traits into adulthood, is a defining feature of human brain development and is believed to play a crucial role in shaping the cognitive and behavioral traits that distinguish our species. While the overall sequence of neurodevelopment is largely conserved across mammals, humans display a uniquely extended maturation process, enabling prolonged brain growth and enhanced neural plasticity. Recent research has highlighted the importance of human-specific genetic modifications, such as single nucleotide variants (SNVs), in driving these developmental changes.
In this seminar, I will present our research on a sapiens-specific SNV located in a regulatory region of a gene linked to neurodevelopmental disorders. Using CRISPR/Cas9 technology, we generated isogenic induced pluripotent stem cell (iPSC) lines carrying either the ancestral SNV or disease-causing mutations. Through a series of detailed cell biological and electrophysiological experiments in iPSC-derived neurons and brain organoids, we explored the functional impact of these mutations on neuronal development. Our findings highlight the role of autolysosomal function in brain evolution and development, revealing significant changes in the pace of neuronal maturation. This work deepens our understanding of the genetic and cellular mechanisms that underpin the unique neurodevelopmental trajectory of modern humans.
The event will be held in English and is open to everyone interested. Welcome!
For further information, please contact Coordinator of Doctoral Programme in Molecular medicine, email dpmm@uef.fi.
