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Beirnes, Kimberly - Abstract

The vast majority of patients born with disabilities can trace the cause of their disability to a genetic abnormality.  The Canadian Human Genetics Conference is a symposium which allows researchers to share their progress into the elucidation of the genetic causes for these disabilities as well as the promising strides into developing treatments for these patients.  I study the disease Schimke Immuno-osseous Dysplasia (SIOD), which is caused by mutations in the SMARCAL1 gene.  WIOD is a multisystem disorder that causes short stature, renal failure and premature death.  Through the use of a genetic screen in fruit flies, we hope to gain an understanding of the mechanism of the disease.  This understanding will aid in finding a treatment to help patients worldwide.

International Award Winners: Chen, S., Faradaji, F., Gaudet, A., Hewapathirane, S., Inskip, J., Mikhail, D., Mills, P., Ramer, L., Simonette, G., Yiu, J.., Zwicker, J.
National Award Winners: Bundon, A., Hume, A., Lige, S., Schiarti, V.