Dr. Christian Steinberg, MD (director of PhD thesis)
Dr. Yohan Bossé, PhD (co-director)
Location: The Research Center of the Institut universitaire de cardiologie et de pneumologie de Québec (CRIUCPQ) (www.iucpq.qc.ca/fr/recherche)
The Institut universitaire de cardiologie et de pneumologie de Québec (IUCPQ-UL) is one of Canada’s leading cardiovascular centers offering tertiary care in cardiology/cardiac surgery, respiratory medicine/thoracic surgery and severe obesity/bariatric surgery.
Research activities of the affiliated CRIUCPQ include basic, clinical and translational science.
The cardiogenetic clinic (CARYGÈNES) of the IUCPQ-UL is one of Canada’s largest specialized inherited arrhythmia clinics providing care to patients and families affected by primary electrical disease and genetic cardiomyopathies. Close collaboration between CARYGÈNES and the CRIUCPQ has resulted in a constant flow of cardiogenetic research projects.
Description of the PhD-project
Hereditary cardiomyopathies account for up to 40% of nonischemic unexplained cardiomyopathies. A large number of different genetic substrates has been identified over the past two decades. The French-Canadian population of the province of Quebec is characterized by a unique genetic background.
1) Cardiac laminopathies related to a LMNA founder mutation: variants of LMNA account typically for 6-8% of hereditary cardiomyopathies. Cardiac laminopathies are characterized by an aggressive phenotype with increased risk of ventricular arrhythmia and end stage heart failure. We have identified a large cohort of cardiac laminopathies related to a LMNA founder mutation that has not been described outside of Canada. This project will focus on deep genetic characterization include haplotype analysis and the identification of genetic modifiers that may affect disease severity.
2) Arrhythmic cardiomyopathy associated with a novel RBM20 variant: variants of RBM20 represent a subgroup of arrhythmogenic cardiomyopathies with poor outcome and early disease onset. Disease manifestation shows important differences between males and females. Our group has identified a novel RBM20 variant that has never been described outside from the province of Quebec. This variant is most likely a founder mutation. This project will focus on haplotype analysis and identification of genetic modifiers that may together with hormonal factors explain the marked phenotype variability and sex-dependent differences of disease manifestation.
Financial support: in the absence of a bursary, the supervisors of this project will assure an annual salary of 20,000 $ CAD over a period of 3 years. If the applicant is already recipient of a bursary, the supervisors will if needed complete the difference for a total amount of 20,000 $ CAD per year. All candidates are strongly encouraged to apply for bursaries or PhD support programmes.
Requirements for the application
Once accepted, the PhD candidate has to subscribe to one of the PhD programmes of the Faculty of Medicine of the Laval University (www.fmed.ulaval.ca).
Tagged as: Life Sciences
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