Title: More or less about 3q29 - dissecting the cellular effects of schizophrenia risk variants, 3q29 del/dup, in neural development and function
Speaker: Bingqing He, Sweden
Outline: Schizophrenia is a severe psychiatric disorder with high heritability, yet its diagnosis and treatment remain limited due to insufficient mechanistic understanding. Recent genomic studies have identified rare copy number variants that confer substantial disease risk, providing unprecedented opportunities to investigate molecular and cellular mechanisms underlying schizophrenia pathogenesis. The 3q29 locus has emerged as particularly significant: its deletion confers one of the highest known genetic risks for schizophrenia (>40-fold increased risk), while its duplication is associated with autism spectrum disorders and intellectual disability. This reciprocal dosage sensitivity suggests that precise gene expression levels within this 22-gene region are critical for normal neurodevelopment and function. In this presentation, we will present our preliminary work investigating the effect of mutations on the 3q29 locus on neural development and function using isogenic hESC lines.
iPSC webinar series: Induced Pluripotent Stem Cells (iPSC) technology offers novel possibilities in studies of the basic molecular and cellular etiopathology of mental disorders as well as investigating drug response mechanisms and novel drug discovery. The iPSC webinar series, organised by the ECNP iPSC Platform for Neuropsychiatry Network, showcases the latest advances in iPSC-based neuropsychiatric research.
These online series, led by Early Career Scientists within the Network, aim to promote the sharing of knowledge and ideas across countries, advance the field of iPSC-based neuropsychiatry, and providing networking and training opportunities for participants.
