Implications of genetics and genomics information for understanding sleep
Sleep is a dynamic process that is crucial for healthy functioning of the brain. The study of human genetics has made significant contributions to our understanding of sleep and sleep disorders. Many sleep traits and sleep disorders are heritable, and there is great interest in identifying the genes involved, as they provide insight on the molecular mechanisms of normal sleep and identify targets for the treatment of sleep disorders. In particular, electroencephalography (EEG) produces a rich and complex signal that contains a great deal of information about normal and abnormal brain function. During sleep, distinct brain activity patterns (EEG events), such as sleep spindles, slow-waves, and k-complexes are the result of interactions between several regions of the brain and comprise an EEG fingerprint. Our recent data suggests that components of the EEG exhibit both trait-like (stable over the lifespan, genetic) and state-like (influenced by the environment, drugs, age, etc) characteristics. Interrogating sleep traits and sleep disorders with human genetics will help us identify the genetic pathways and modifiers of brain activity during sleep, and better understand its role in health and disease.
Simon Warby is an Assistant Professor at the University of Montréal studying the genetics of sleep and sleep disorders. He is interested in understanding how sleep loss and disease can influence the activity of the brain, and how variations in the human genome modify this process. Important EEG microarchitectural features that appear during sleep, such as sleep spindles, are markers of healthy brain function and are linked to learning and memory. His lab develops informatic tools to quantitate sleep EEG features from large datasets in order to understand normal sleep, and identify physiological and genetic biomarkers useful for neurological, psychiatric, and sleep disorders.
Dr. Warby is the director of the Canadian Sleep Research Biobank, which facilitates the collection of biological materials such as blood, cells and DNA to enable genetic and biomarker studies within the Canadian Sleep and Circadian Network. Current projects include REM-sleep behavior disorder, sleep disordered breathing and sleepwalking. One area of specific focus is the genetic basis of insomnia, which is closely linked to psychiatric diseases such as depression and anxiety.