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'De novo mutations in autoimmune diabetes' - 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: Constantin Polychronakos

Supervisor's Email: constantin [dot] polychronakos [at] mcgill [dot] ca

Supervisor's Phone: 5144124400 ext. 22866

Supervisor's Website: http://muhc.ca/research/researcher/constantin-polychronakos-md

Supervisor's department: Human Genetics

Course number: HGEN 396 (Human Genetics)

Term: Fall 2013-2014

Project start date: Tuesday, September 3, 2013

Project end date: Tuesday, December 3, 2013

Project title: De novo mutations in autoimmune diabetes

Project description (50-100 words suggested): We are testing the hypothesis that de novo mutations play an role in the aetiology of type 1 diabetes (T1D). Germline inheritance explains approximately 50% of T1D and, although environment may play a role in the remaining 50%, a substantial part of it may be due to de novo mutations either in parental germ cells or early post-zygotically.

By exon-capture and next-generation sequencing of DNA pools of T1D cases and their parents, we have discovered 227 protein-altering, single-nucleotide variants in the case pools that were absent from the parent pools. This needs to be confirmed by PCR and sequencing on the 48 individuals comprising each pool in which a variant was found.

Learning objectives: Mutation detection, interpretation of NGS results, computational annotation of genes and variants, some statistical methodology.

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 report 50%; Performance 40%; Oral presentation 10%.

Project status: This project is taken; however students may contact the professor to discuss other possible '396' projects this term.

How students can apply: 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.

Please start by e-mailing prof a CV and unofficial Minerva transcripts

Ethics, safety, and training: Supervisors are responsible for the ethics and safety compliance of undergraduate students. This project involves human subjects.

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:


Date:


Unit chair/director/designate's name:


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


Date: