Biological mechanisms underlying neurodevelopmental and neuropsychiatric disorders: findings from hPSC models

Biological mechanisms underlying neurodevelopmental and neuropsychiatric disorders: findings from hPSC models.
Theme: Neurodevelopment, stem cells, and associated disorders

Sunday 23rd April, 13:00 – 14:40

Neurodevelopmental disorders such autism spectrum disorder, schizophrenia and Rett syndrome affect both children and adults with considerable social economic burden but treatment for these disorders has not been effective. The lack of effective medication is rooted in our poor understanding of how the disease is initiated and progressed. It is known that these disorders are significantly related to individual's genetic makeup. Disease-related genetic alterations include copy number variation (CNV), rare deleterious mutations and single nucleotide polymorphism (SNP). It is vital that we gain a better understanding of how these genetic alterations act during brain development and its function for designing more effective treatment. 

Human pluripotent stem cells (hPSCs) including human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs) provide a good platform to study human neurons and their development. With CRISPR genome engineering and/or using patient-derived hiPSCs, altered biology driven by disease-associated genetic components can be studied. Using various protocols developed so far, different types of neurons can be generated from hPSCs both in two-dimensional and three-dimensional settings. This is useful as various types of neurons have found to be associated with the disorders in different degrees. With the advances made in single-cell level analyses such as single-cell RNA sequencing, more knowledge has been being unveiled. This symposium will discuss the biological mechanisms underlying several neurodevelopmental disorders revealed using hPSC models.

  • Eunju Jenny Shin, Keele University, UK: Understanding genetic risk factors for neuropsychiatric disorders in cortical interneuron development using human pluripotent stem cell differentiation (co-chair)
  • Deepak Srivastava, King's College London, UK: Translating genetic susceptibility to neurobiological understanding of schizophrenia – insights from ZNF804A, the original common variant.
  • In-Hyun Park, Yale University, USA: talk title TBC
  • Rana Fetit, University of Edinburgh, UK: The effects of 16p11.2 deletion on subpallial development in ventral telencephalic organoids (co-chair)

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