Genetic modifiers of human sleep and polysomnography traits


Simon Warby

Centre de recherche de l'Hôpital du Sacré-Coeur de Montréal


Domaine : neurosciences, santé mentale et toxicomanies

Programme chercheurs-boursiers - Junior 1

Concours 2014-2015

During sleep, the brain performs repetitive patterns of activity that can be measured using electroencephalography (EEG).  Many of these distinct patterns, such as "sleep-spindles" and "k-complexes", can be described as an EEG fingerprint that is unique to each individual.  These brain activity patterns are trait-like and highly heritable.  Although it is clear that our genes influence these patterns, it is not clear which specific genes are involved.

The initial goal of this project is to better understand the function of one specific EEG pattern, sleep spindles, by identifying the genetic modifiers of sleep spindle characteristics.  First, we will refine and evaluate bioinformatic tools used to automatically identify spindles in the EEG signal.  Once these tools are adapted to work in very large datasets, we can perform a genome-wide association study to identify the genes that are associated with changes in sleep spindle characteristics in the human population.  Further, we will perform molecular experiments to validate the genetic findings and determine the specific role of the genetic change on the candidate proteins we identify.  Sleep spindles are important both in health and disease, because they play an important role in learning and memory, and are altered by many neurological disorders.  In parallel, we will also test these bioinformatic tools as biomarkers to track the onset or progression of neurological disease.

Our first step will be to monitor changes in sleep spindles over time in patients with REM sleep behaviour disorder (RBD) who are at high risk of developing neurodegenerative disease later in life.  Revealing the genetic basis of EEG traits will further our understanding of the mysterious process of sleep, as well as the mechanisms that allow the brain to remain adaptive, to learn and retain memories.  The genes identified may also serve as new drug targets for treatment of specific sleep and neurological disorders.