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The Changing Human Genome: Implications for Disease and Evolution Video Lecture
In this one-hour video talk from the University of Washington’s Molecular Medicine Training Program, HHMI Investigator and University of Washington geneticist Evan Eichler, Ph.D., examines what current human genome research reveals about disease. Dr. Eichler describes his own research into the structure and organization of the genome. He explains the experimental and computational techniques and assays he used to determine the existence of certain “hotspots” of genomic instability—particularly "plastic" regions of the human genome that have changed in structure and content very quickly over the course of evolution. Some of these regions have been associated with a new type of genetic disease—syndromes that are not inherited from parents but instead stem from the deletion or duplication architecture of the genome itself. His lab has discovered three new “microdeletion syndromes” associated with mental retardation, and his research has shown that the majority of diseases with these spontaneous losses or gains of DNA involve cognitive disabilities and/or severe congenital abnormalities. In concluding, Dr. Eichler notes that the human genome is unstable, that there is no perfect genome, and that structural changes (insertions, duplications, deletions, and inversions of DNA) are extremely common in the human population. The positive and negative effects of the evolutionary history of the human genome require further study. The talk was originally presented as a public lecture for a local audience, including high school students. Videos of other public science lectures are also available within this database and on the University of Washington’s Molecular Medicine Training Program’s website, which adds new videos as lectures take place. The talk can complement discussions of diseases with multigenic origins, including some kinds of mental retardation, epilepsy, and mental illnesses.
Program Director: Nancy Maizels, Ph.D.
Award Years: 2006
Summary: The University of Washington is a public research university in Seattle, Washington. Its Molecular Medicine Training Program, funded by HHMI's Med into Grad Program, provides Ph.D. students with training that integrates fundamental principles of biology with human health and disease. The program incorporates three key elements: case-based courses, a clinical rotation in human genetics or a medical pathology course, and dual mentorship of Ph.D. research by a basic scientist and a clinically trained or clinically oriented research scientist.