Symposium
Session Room 219
Session Room 219
Wednesday, June 18, 02:40 PM – 03:55 PM
Symposium 18: Neurodevelopmental Disorder Models and Mechanisms
Neurodevelopmental disorders (NDDs), such as intellectual disability and autism spectrum disorders (ASDs), pose significant challenges to both clinical and basic neuroscience and neuropsychopharmacology. Comprehensive studies using diverse models are needed to understand the underlying mechanisms of NDDs. This proposed symposium aims to bring together leading researchers who are making significant strides in elucidating the complex mechanisms and models underlying the NDDs The symposium consists of three speakers from different countries and focuses on the latest advancements in understanding the genetic and epigenetic factors that contribute to the NDDs, offering new insights that can inform future research and therapeutic strategies.
Copy number variants (CNVs) at human chromosome 22q11.2 are associated with social and cognitive deficits and NDDs, but mechanisms underlying this association are still poorly understood. In this presentation, Prof. Noboru Hiroi (UT Health San Antonio, USA), a member of CINP and an authority in NDD research (1, 2), will describe his recent unpublished observations that TBX1 contributes to social and cognitive deficits through its functions in 1) the development of the amygdaloid complex and its cellular activity and an expression balance of genes involved in inhibitory and excitatory neurons and 2) cell cycle of neonatal stem cells (3).
Dr. Valter Tucci (Italian Institute of Technology, Italy) is a leader in multidisciplinary neuroscience research and exploring genomic imprinting-related diseases (4, 5). His team has recently uncovered a new evolutionary mechanism where NPAP1, a nuclear pore-associated protein, influences lipid accumulation and circadian rhythm alterations in Prader-Willi Syndrome, one of the typical imprinted diseases. Different NPAP1 variants affect adipogenesis and lipid uptake processes. These effects are mediated by transcription factors FOXO1 and HGMA1, highlighting their role in lipid regulation.
Dr. Takako Kikkawa (Tohoku University Graduate School of Medicine, Japan) is a rising female researcher (6, 7) and will introduce a novel concept of "paternal effects" on brain development focusing on Fragile X syndrome (FXS). FXS is caused by an expansion mutation in the FMR1 gene, which encodes FMRP, a pivotal protein for neurogenesis in brain development. Dr. Kikkawa serendipitously found that the expression of imprinting genes during brain development was affected depending not on the genotype regarding Fmr1, but whether their father was the wild type or Fmr1 knockout mouse. Her unpublished data hint at a potential role of FMRP in regulating gene imprinting in a parent-of-origin-specific manner.
This symposium will provide a comprehensive overview of the current state of research on neurodevelopmental disorder models and mechanisms by covering a range of perspectives, from genetic and epigenetic influences to novel concepts like paternal effects. It aims to foster discussions that will lead to a deeper understanding of the intricacies of brain development and the emergence of neurodevelopmental disorders, ultimately paving the way for developing novel therapeutic approaches.
Copy number variants (CNVs) at human chromosome 22q11.2 are associated with social and cognitive deficits and NDDs, but mechanisms underlying this association are still poorly understood. In this presentation, Prof. Noboru Hiroi (UT Health San Antonio, USA), a member of CINP and an authority in NDD research (1, 2), will describe his recent unpublished observations that TBX1 contributes to social and cognitive deficits through its functions in 1) the development of the amygdaloid complex and its cellular activity and an expression balance of genes involved in inhibitory and excitatory neurons and 2) cell cycle of neonatal stem cells (3).
Dr. Valter Tucci (Italian Institute of Technology, Italy) is a leader in multidisciplinary neuroscience research and exploring genomic imprinting-related diseases (4, 5). His team has recently uncovered a new evolutionary mechanism where NPAP1, a nuclear pore-associated protein, influences lipid accumulation and circadian rhythm alterations in Prader-Willi Syndrome, one of the typical imprinted diseases. Different NPAP1 variants affect adipogenesis and lipid uptake processes. These effects are mediated by transcription factors FOXO1 and HGMA1, highlighting their role in lipid regulation.
Dr. Takako Kikkawa (Tohoku University Graduate School of Medicine, Japan) is a rising female researcher (6, 7) and will introduce a novel concept of "paternal effects" on brain development focusing on Fragile X syndrome (FXS). FXS is caused by an expansion mutation in the FMR1 gene, which encodes FMRP, a pivotal protein for neurogenesis in brain development. Dr. Kikkawa serendipitously found that the expression of imprinting genes during brain development was affected depending not on the genotype regarding Fmr1, but whether their father was the wild type or Fmr1 knockout mouse. Her unpublished data hint at a potential role of FMRP in regulating gene imprinting in a parent-of-origin-specific manner.
This symposium will provide a comprehensive overview of the current state of research on neurodevelopmental disorder models and mechanisms by covering a range of perspectives, from genetic and epigenetic influences to novel concepts like paternal effects. It aims to foster discussions that will lead to a deeper understanding of the intricacies of brain development and the emergence of neurodevelopmental disorders, ultimately paving the way for developing novel therapeutic approaches.