PROJECT TITLE: FGFR3 IN BONE DEVELOPMENT

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Research Bursary Program
Supervisor Project Proposal (Summer 2014)
Supervisor Last Name: THANASSOULIS
Supervisor First Name: George
McGill Dept/School: Department of Medicine, MUHC
Faculty Professor (Full, Associate or Assistant): Assistant Professor
Email: george.thanassoulis@mcgill.ca
Phone No. (optional):
Research Field: Cardiology, Genetics, Epidemiology
Proposal No. (1 or 2): 1
Research Location (McGill or affiliated institution): McGill University Health Center (RVH)
Ethics approval will be required for proposed project (Yes/No): No
Proposed project will involve chart reviews (Yes/No): No
Project Title (maximum 1 line): Are Osteoporosis and Aortic Stenosis Genetically Linked?
Hypothesis/Question to be Addressed (maximum 4 lines): Aortic Stenosis and Osteporosis are both age-related
diseases that involve calcium metabolism. Individuals with osteoporosis appear to have higher rates of aortic
valve disease and more rapid progression of their valve disease. We hypothesize that common genetic
mechanisms underlie both osteoporosis and aortic valve calcification.
Specific Aims (maximum 10 lines): 1. Using a large database of nearly 7000 individuals with aortic valve calcium
measured by cardiac CT and full genomewide data, we plan to establish whether genetic variations predisposing
to osteoporosis are also associated with the presence of aortic valve calcium.
Role of Student (maximum 15 lines): The student will have the following roles:
1. Identify the genetic variants associated with osteoporosis from the literature and from genetic databases
(i.e. National Human Genome Research Institute’s GWAS online catalog).
2. Create a dataset with the required information for analysis (i.e. SNP rs number, risk allele, minor allele
frequency, effect size and direction, standard error, p-value).
3. Work with a genetic analyst to run the appropriate statistical tests
4. Draft an abstract and manuscript (including Tables and Figures).
5. Understand the basic principles of genomic epidemiology (especially Mendelian Randomization).
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