Doctoral abstract

The treatment of diseases costs each Canadian a large amount of money. There is a genetic basis behind resistance to antibiotics and various genetics diseases. Genetic background accounts for predisposition to diseases, and the knowledge of the latter can promote better lifestyle. Sequencing technologies allow physicians to diagnose precisely the cause of some genetics disease, and thus explain patients the very cause of their sickness. When a resistant strain hits hard on a health care centre, the rapid identification of the pathogen agent is essential to avoid unnecessary lost of human lives. Genetic tests and pathogen detection kits are based on nucleic acid technologies, such as high-density micro-arrays and sequencing technologies. In the case of genetic diseases, these technologies allow the pinpointing of malfunctioning proteins, and the latter are addressed with tailored drugs, if any. There is a great need in Canada for people that can analyse the data produced by these DNA technologies -- we call them bioinformaticians. Owing to the complexity of the human genome and to the evolution of the associated technological medicine, new powerful tools are necessary to analyze the sheer volume of data. The knowledge of mutations that set the predisposition to known diseases, such as Alzheimer's disease, surely improves on the quality of life. The rapid detection and characterisation of disease agents reduces the chance of outbreak, and improves population health. In the next decade, sequencing technologies will allow the study of human genome variation through the sequencing of a thousand human genomes, offering a deep catalog of human genetic variation ( During my doctorate, I will develop tools to answer these important health questions in genomics.


Thu Feb 10 17:16:06 EST 2011