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Bioinformatics & The Human Genome

Bioinformatics & The Human Genome. Lecture 14 March 8, 2013 Victoria Aceti Chlebus. Agenda. Bioinformatics Case Study: Artemis & Data Baby Human Genome Human Genome & Research Final Thoughts & Blog Assignment. Bioinformatics.

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Bioinformatics & The Human Genome

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  1. Bioinformatics & The Human Genome Lecture 14 March 8, 2013 Victoria Aceti Chlebus

  2. Agenda • Bioinformatics • Case Study: Artemis & Data Baby • Human Genome • Human Genome & Research • Final Thoughts & Blog Assignment

  3. Bioinformatics • Discipline focused on improving the storing, transmitting, collection & analysis of biological attributes • Asks “what are the biological signals our bodies are already transmitting that can help us understand our body (our diseases) better?” • Dr. Topol discusses bioinformatics as the next frontier in understanding our bodies and disease. • Have the computational power to be able to collect, store, analyze and transmit this data like never before.

  4. Bioinformatics in Canada How Dr. mcGregor Saw Health: • Canada Health Informatics Research Chair: Dr. Carolyn McGregor • UOIT Professor focusing on combining data to improve predictive diagnosis • Vast amount of information is paper-based • Complex interdisciplinary communication & team-based care • Concurrent clinical pathways

  5. Artemis “Data Baby” • Goals: reduce LOS, improve long-term outcomes and save lives. • Outcomes: improve the diagnosis of sepsis 24 hours before clinical apparent, use data to understand neonatal disease and complications to improve clinical guidelines • Challenges:20 years of patient data – can we sort through that information?; ensuring the results are clinically relevant; knowing when clinical judgment supersedes that of an information system

  6. Human Genome • Human Genome Project took 10 years before it was applied in a clinical setting • Only 1.5% of our genes actually are protein codes – so while we have about 6 billion pairs, only 23,000 of those are the codes of the proteins – and that is what is called Exome sequencing • First genome sequencing took 13 years at a cost of $2.7 Billion, today it can be done for $4,400 and 1000 genomes can be sequenced in a month.

  7. Human genome research “Just as personal digital technologies have caused economic, social and scientific revolutions unimagined when we had our first few computers, we must expect and prepare for similar changes as we move forward from our first few genomes” (George Church). • After 10 years, has yielded very little in our understanding of the root causes of disease • Developed new discipline, Pharmacogenomics • Pharmacogenomics: using genome sequencing to explore the chance of a drug treatment succeeding

  8. Human genome research: Oncology • Looking at the different combinations of Chemotherapy and how different individuals react to these therapies based on their sequence • Genetically screening to identify individuals at high risk for cancer • Developing viral messengers to attack genetically mutated cells • Predictive technology for cancer cell growth and aggression.

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