Human Brain Development
Our Research
What cell types are affected during brain development when a neurodevelopmental disorder is present?
Leveraging a high-resolution cell atlas generated through single-cell RNA sequencing, we now have an unprecedented view of the diverse cell types and lineages that emerge during the first trimester of human brain development. This comprehensive atlas provides a detailed roadmap of the early stages of brain formation, highlighting the dynamic processes that drive cellular differentiation and regional specification.
By applying advanced computational tools, we identify key cell types and brain regions that play critical roles in neurodevelopmental disorders. These insights enable us to uncover potential mechanisms underlying these conditions and pinpoint targets for future therapeutic exploration.
How does alternative splicing regulate neurodevelopment and contribute to neurodevelopmental disorders?
Alternative splicing plays a critical role in brain development by enabling a single gene to produce multiple protein isoforms, thereby increasing the complexity of the proteome. This process is important during brain development, regulating proper differentiation, neural migration, and synaptic function. Disruptions in alternative splicing can lead to the production of abnormal protein isoforms, which contribute to the pathology of neurodevelopmental disorders such as Autism spectrum disorders, intellectual disability and Rett Syndrome. We systematically investigate how splicing aberrations impact brain development and uncover their role in causing neurodevelopmental disorders.
