Neurobiology of Psychiatric Disorders: New Perspectives on Mental Illness Associated with High Penetrance Genetic Variants

Dr. Noburo Hiroi is a researcher interested in improving our understanding of the fundamental causes of developmental neuropsychiatric disorders such as autism, schizophrenia, and intellectual disabilities. His approach is interdisciplinary and his expertise includes cell biology, genetics, anatomy, mouse behavior, and developmental neuropsychology.

• 1. Rare and ultra-rare genetic variants associated with psychiatric disorders2. 3q29: Psychiatric disorder-related phenotypes in a mouse model of recurrent 3q29 deletion3. 7q11.23 deletion (Williams syndrome)4. GTF2I: Unveiling the Multifaceted Role in Williams Syndrome - Insights into Brain Development, Myelination, and Social Behavior5. Genetics of 15q11-q13 duplication syndrome and its mouse models6. The 16p11.2 syndromes, common and specific impacts of genetic dosage in mammals7. The impact of gene copy number on psychiatric disorders and its usefulness for gene discovery8. A genomic window for cognitive and social dimensions of Intellectual disability, ASD, and schizophrenia9. Molecular Analysis of Glutamatergic Neurons and Microglia Derived from Induced Pluripotent Stem Cells Containing PPM1D Mutations Associated with Jansen de Vries Syndrome.10. Pitt-Hopkins syndrome: TCF4: A transcriptional regulator of neural cell type composition, circuit maturation, and myelination.11. SCN2A: Cell-specific functions in developing epilepsy and ASD.12. Molecular and clinical implications at the intersection of Schaaf-Yang syndrome and Prader-Willi syndrome.13. Rett/MECP2: Roles in postnatal brain development through maintaining chromatin integrity, neuronal function, and circuitry balance.14. Post-embryonic stem cells as the origin of Tbx1-dependent social and cognitive dysfunctions of developmental neuropsychiatric disorders15. Dysmyelination and ASD16. High-confidence autism risk gene product POGZ regulates neurodevelopment and social behavior.17. Mechanistic Insights into FoxP1 and Neurodevelopmental Disorders: Cellular, molecular, and genomic perspectives18. The neurodevelopmental spectrum of CHD2-related brain disorders19. Smith-Magenis Syndrome: emerging roles in the regulation of transcription and synaptic function 20. Physiopathological roles in brain development and social/cognitive functions21. Pten: Interneuron-based therapeutic approach22. A neuron-specific gene in controlling forebrain development and autism-linked phenotypes23. Fragile X: Genetic perspective of Fragile X syndrome therapeutics24. Synaptic dysfunctions of Phelan-McDermid syndrome