Supervisor's Name: Geneviève Bernard
Supervisor's Email: genevieve.bernard [at] mcgill.ca
Supervisor's Phone: 514-412-4400 ext 23380
Supervisor's department: Neurology and Neurosurgery, Pediatrics, Human Genetics
Course number: HGEN 396 (Human Genetics)
Term: Winter 2013-2014
Project start date: Monday, January 6, 2014
Project end date: Friday, April 11, 2014
Project title: Molecular Characterization of Pol III-related Leukodystrophy
Project description (50-100 words suggested): Leukodystrophies are a heterogeneous group of neurodegenerative disorders characterized by abnormal white matter on brain imaging. They lead to progressive neurological deterioration, increasingly important disabilities, and ultimately to death, typically within months to years after their initial presentation.
Pol III-related leukodystrophy is a hypomyelinating variety of the disorder caused by mutations in the POLR3A or POLR3B gene. Ongoing work has revealed characteristic radiologic features of the disease and a clinical picture is emerging. However, the pathophysiology of Pol III-related leukodystrophy is not well-defined. Little is known about the molecular manifestation of POLR3A or POLR3B mutations.
In this project, the student will investigate Pol III-related leukodystrophy pathophysiology by exploring polymerase III complex protein-protein interactions and RNA dynamics.
Prerequisite: 1 term completed at McGill + CGPA of 3.0 or higher; or permission of instructor.
Grading scheme (The final report must be worth at least 50% of final grade): Final grade shall be based on an evaluation of laboratory (or equivalent) performance (40%), a final written report (50%), and an oral presentation (10%) by the supervisor. Details of the evaluation scheme will be provided by HGEN to supervisors and applicants.
Project status: This project is taken; however students may contact the professor to discuss other possible '396' projects this term.
How students can apply / Next steps: For HGEN: After all of the parts of this application forms are completed and the hard copy is signed by the professor and the student, bring the application form and a copy of your unofficial transcript to the Department of Human Genetics (to the attention of Dr. Patricia N. Tonin, Stewart Biology Building N5.13) during office hours.
Ethics, safety, and training: Supervisors are responsible for the ethics and safety compliance of undergraduate students. This project involves: Handling chemicals