Grant: Doctoral Award - Frederick Banting and Charles Best Canada Graduate Scholarships

Human DNA is over 3 billion units long and composed of four types of chemical building blocks: A, C, G, and T. A DNA mutation represents a change in one or more of the building blocks at specific place(s). Most of these changes are benign and commonly shared among the human population. However, there are also mutations that are rare, only present in a specific individual, family, or sub-group of people. Such mutations can sometimes cause a disease to manifest, such as cancer, cystic fibrosis, sickle-cell anemia, or intellectual disabilities. Due to high financial costs, past technologies restricted scientists to the study of only small portions of the human DNA. Newer technological advancements have brought this cost down to an affordable level (from over 2 billion to under 5000), allowing researchers to obtain the complete DNA sequence for an individual. Nevertheless, we are still limited by the ability to understand and interpret this data. By figuring out a way to compare a patient's DNA to "normal" DNA, we can decipher which mutations are most likely to cause a disease. For my doctoral research in bioinformatics -a multidisciplinary field uniting computational, statistical and biological sciences- I am developing software that can analyze DNA sequences to find mutations responsible for a disease. As mentioned above, most mutations are benign, and it is crucial for investigators to pinpoint which ones are responsible for causing the actual disease. I will accomplish this by implementing a ranking method that sorts the mutations in the order of relevance to the disease. If successful, the mutations at the top of this ranked list will be the mutations that are likely candidate causes for the disease. Although throughout my project my data focus will be on patients with treatable intellectual disabilities, the final product of my research is applicable to a wide range of diseases, and will advance the use of DNA sequences in health care services.