Human genetic discoveries offer an advantageous starting point for dissecting biological mechanisms in complex brain disorders because of their unique ability to imply cause-and-effect relationship. Building on the recent findings of affected genes from well powered genome-wide association and sequencing studies, our goal is to illuminate the mechanisms driving pathology of severe mental and neurodevelopmental disorders. To do this, we leverage genetic data from large Finnish sample collections and patient cohorts with detailed clinical information. These include nation-wide biobank-collections in the FinnGen study and the SUPER study of the hereditary mechanisms behind psychotic illnesses, and the Northern Finnish Cognitive Impairment study, co-led by Olli Pietiläinen.
To improve understanding of disease pathology, we investigate biological mechanism of genes implicated in different neuropsychiatric disorders using human induced pluripotent stem cell (hiPSC) -derived neuronal models. Our work in grounded on extensive cell collections from over 8,000 sequenced individuals with detailed clinical data available. We combine multifaceted experimental cell biology, gene editing, microfluidic cell cultures, and functional genomics approaches to interrogate biological mechanisms behind central nervous system disorders. We particularly focus on severe mental disorders, such as schizophrenia, and neurodevelopmental disorders.
Genetic factors influence the susceptibility for psychotic disorders, and hundreds of genes and genomic loci have been implicated in the disorders. The different disorders share genetic factors and symptoms, and it is common that affected individuals have more than one psychiatric diagnosis over a lifetime that can reflect individual’s disease course. We are interested in understanding how genetic factors contribute to different disease courses and outcomes. To do this, we have tracked study participant’s disease trajectories and their need for psychiatric hospital care using longitudinal nation-wide, full-coverage medial record data collected from 1969 and onward. We combine the clinical and genetic data with information from passed medication usage to decipher the treatment responses and health impacts of medications used for treating psychotic disorders.
Our research group comprises of diverse, multidisciplinary group of researchers in the interface of genetics and molecular biology including, wet lab cell biology, bioinformatics, and engineering. We are part of the HiLIFE Neuroscience Center at the University of Helsinki medical campus and joined in the vibrant, multidisciplinary life science community with strong collaborative ties. We have dedicated lab space and cell culture rooms and cutting-edge technologies housed at the Neuroscience Center and access to state-of-the-art HiLIFE core facility technology platforms including, high-throughput genomics platform, and high-content imaging. In addition, we have close links with the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard.