Type 1 narcolepsy is a severe sleep disorder, where patients have fragmented night time sleep, and extreme sleep deprivation. This leads to severe daytime sleepiness. While type 1 narcolepsy is caused dysregulation of the sleep-wake cycle, the underlying mechanism is an autoimmune loss of specific neuronal population in lateral hypothalamus that produce hypocretin neurotransmitter. We have identified several genetic risk factors for type 1 narcolepsy and fine mapped their functional effects. In this project, we further the analysis of type 1 narcolepsy and expand that to cover other sleep disorders, including type 2 narcolepsy, chronic fatigue syndrom and idiopathic hypersomnia.
Primary outcomes of sleep disruption are increased risk for psychiatric, cardiometabolic diseases and inflammatory diseases including cancer. Consequently, sleep problems increase all-cause mortality, cardiovascular mortality and cancer mortality. These diseases are the leading cause of disability and death in Finland and globally. However, how sleep and sleeping problems predispose to diseases is largely unknown. The goal of my team is to systematically examine the risk factors that connect sleep disruption with cardiometabolic, psychiatric and cancer disease risk. After identifying these variants we examine functional effects underlying genetic risk variants. In our work we use primarily Finnish population cohorts and registry-based data. This project has direct impact on our understanding why sleep disruption is a strong risk factor and a biomarker for poor cardiometabolic health and increased mortality.