Genomics of human brain disorders

Olli Pietiläinen research group

We use functional genomic approaches in scaled studies of human stem cell derived neuronal models to illuminate biological processes and molecular mechanisms in schizophrenia and related neuropsychiatric disorders. Understanding the pathophysiology of these illnesses is a major challenge for the medical field: They begin early in life and have substantial negative effects on public health. Development of effective therapies has stagnated for decades for these disorders, due to limited understanding of the underlying biology.

We aim to take advantage of the modern induced pluripotent stem cell (iPSC) technology to generate renewable source of relevant human cell types for biological modeling of neuropsychiatric disorders. Fueled by the recent gene variant discoveries, we combine genomic readouts with functional cellular assays to discover biological processes that lead to the onset of neuropsychiatric disorders. In these studies, we use genetically stratified cell lines from extensive sample collections from patients and controls in Finland. The in vitro differentiations provide a scalable platform that enables carefully controlled experimental conditions, genetic engineering, and a temporal window of neuronal development and function. We believe that by coupling genetic information with high-throughput genomic data and functional assays in the same cellular system, we can discover causative relationships associated with the genetic risk variants. We further believe that the obtained biological insights will promote novel therapeutic discoveries for neuropsychiatric disorders.