Investigating impact of schizophrenia associated non-coding variants using brain organoids
|Title||Investigating impact of schizophrenia associated non-coding variants using brain organoids|
|Sponsor||Marie Skłodowska-Curie Action (MSCA)|
Associated cell lines
What makes us susceptible to a genetic disease is a central question in human genetics. Although, coding mutations have revealed the mechanisms of many genetic diseases, the same approach is not adequate to unravel the etiology of complex neuropsychiatric diseases such as schizophrenia (SCZ). Genome wide association studies revealed that the majority of SCZ-associated polymorphisms map to the non-coding regions and possibly alter gene expression. However, the functional consequence of these polymorphisms on gene regulation remains largely unknown. Although the onset of SCZ symptoms occurs in late adolescence, SCZ patients show differential expression of neurodevelopmental genes and defects in neuronal maturation. Therefore, it is postulated that the SCZ phenotype is a late manifestation of defects in neurogenesis and neuronal maturation. We will investigate the link between these SCZ-associated non-coding variants and their implication on gene expression using the developing cortical organoids.