01 - January 8, 2013.docx

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Molecular Genetics and Microbiology
Johanna Rommens

MGY470H – lecture January 8, 2013 Course overview: - Human genetics important – implications for genetic diseases and clinical care - Focus on human genome - Human genome project and genomic sequencing - Maps of the genome - September 2012 – 30 papers – oncogene project – landmark!! - Classic human genetics – imprinting - Finding genes and diseases – changing methods th - Feb 12 – TERM TEST - When a gene is mutated – consequences o Gain of function, loss of function – impact on pathology - Therapies – gene therapy interest has waned – it is difficult – some diseases may be plausible – some resurgence – the concept is right - Mouse models for genetic disease - Mitochondrial disease – separate genome – impact a number of inborn diseases o Also importance in aging – particular processes in muscles and brain need mitochondrial - Cancer genetics – genome changing and its meaning in disease - NEED TO DO EXTRA READING beyond the assigned readings Human Molecular Genetics – 4 edition Henry Stuart Lectures – sections on human genetics, population genetics Office Hours: email to arrange Human Genome and Genetic Analysis - Chromosome structure and function o MULTICELLULAR - Gene identification and characterization o Diseases – genetic – or de novo mutations - Understanding bases o Genetic factors in combination with lifestyle o Pharmaceutical response differences  Adverse responses – sensitivities in people - Diagnostic and clinical information o Better diagnoses = early diagnoses, diagnostic tests for ALL conditions (presently, less than half are diagnostic tests) o Predicting prognosis o Quantitative/continuous – ex, prone to heart attacks o Personalized medicine o Complex trait – macular degeneration o Whole exome, whole genome sequencing in cases of cystic fibrosis  Most people have 20ish deleterious mutations –
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