Génétique du trouble comportemental en sommeil paradoxal (SP) et progression vers les maladies neurodégénératives



Université McGill


Domaine : génétique humaine

Programme Chercheurs-boursiers - Junior 1

Concours 2018-2019

Partenaire :

Parkinson Québec

As the world's population ages, diseases that are more common among the elderly threaten to become a world epidemic. Parkinson's disease (PD), which belongs to a group of diseases called synucleinopathies, is the second most common neurodegenerative disorder, affecting 1-2% of the population older than 60 years. Due to its slow progression, individuals with PD can live for many years with the heavy burden of the disease. This burden is physical, psychological, social and financial, and it affects not only the patient, but their families and the entire society. In recent years, there is accumulating evidence that genetics play an important role in PD, and based on genetic data, new mechanisms and new potential drugs are being explored. In parallel, it was shown that individuals with a sleep disorder called ‘REM sleep Behavior Disorder (RBD)', will develop PD or similar synucleinopathies 10-12 years in average after the diagnosis. By studying the world's largest genetic cohort of RBD patients, as well as large cohorts of PD patients, our aim is to identify genetic factors that lead to RBD, and that affect the progression from RBD to synucleinopathy.

In addition, by using stem cells from patients, we plan to explore the mechanisms that may lead to RBD and afterwards to PD or other synucleinopathy. To do so, we will use advanced genetic methods, such as genome-wide association studies combined with next generation sequencing. Skin samples from patients with various genetic mutations will be taken, and stem cells will be produced and further studied. This combined approach can advance our understanding of the genetics of RBD, allow earlier identification of patients who may develop PD, and provide new targets for therapeutics development.