'Molecular Characterization of Pol III-related Leukodystrophy' - HGEN 396 Undergraduate Research Project Application Form

INSTRUCTIONS - PROFESSORS: Please print and review this form. Complete or correct the sections, as applicable, from "Supervisor's Name" to "Ethics, safety, and training". Please sign and date near the bottom ("Supervisor's signature").

INSTRUCTIONS - STUDENTS: You may receive this form by email, or you may download it after it has been posted here. Either way, print and review this form. Complete or correct the sections, from "Student's Name" to "Student's Level", and sign ("Student signature"). Ask your supervisor to sign her/his section near the bottom. Take it to the department* corresponding to the course number in Section A; this may or may not be your own department. (* EXCEPTIONS: For NSCI 396 and COGS 396, please bring it to the Interdisciplinary Programs Adviser in Dawson Hall.) Do not register for a '396' course on Minerva until you receive departmental permission. Have a discussion with your supervisor about time/work expectations, keeping in mind that this is a 3-credit course (roughly, 10 hours per week for 12 weeks). Remember that a '396' course is an elective.

INSTRUCTIONS - DEPARTMENTS: After the unit chair/director/designate approves (or not) this project, please notify student. If approved, please give student permission to register on Minerva, and send a copy of this form (with signatures) to the Office for Undergraduate Research in Science (either fax, or internal mail to Dawson Hall 408-A, or PDF scan + email).

QUESTIONS OR FEEDBACK? Contact the Office for Undergraduate Research in Science.

Supervisor's Name: Geneviève Bernard

Supervisor's Email: genevieve [dot] bernard [at] mcgill [dot] ca

Supervisor's Phone: 514-412-4400 ext 23380

Supervisor's Website: http://www.thechildren.com/departments-and-staff/staff/genevieve-bernard-md-msc-frcpc-pediatric-neurologist

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

Student's Name:

Student's McGill ID:

Student's McGill Email:

Student's Phone:

Student's Program:

Student's Level (U0 / U1 / U2 / U3):

Student's signature - I certify that this course is with a different supervisor and on a different topic than any previous '396' course I have taken. I have not applied for another '396' course in this term:

Supervisor's signature - I give my permission for the student identified above to register for this project under my supervision:


Unit chair/director/designate's name:

Unit chair/director/designate's signature - I certify that this project conforms to departmental requirements for 396 courses: