MGY299Y1 Lecture Notes - Human Molecular Genetics, Human Genome Project, Macular Degeneration
Document Summary
Human genetics important implications for genetic diseases and clinical care. When a gene is mutated consequences. September 2012 30 papers oncogene project landmark: 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. Mitochondrial disease separate genome impact a number of inborn diseases: 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. Henry stuart lectures sections on human genetics, population genetics. Gene identification and characterization: diseases genetic or de novo mutations. Understanding bases: genetic factors in combination with lifestyle, pharmaceutical response differences. Most people have 20ish deleterious mutations need to separate these fromthose causing diseases. Genome big: but does not have a thousand times more genes size does not correlate to number of genes.