Talking Glossary of Genetic Terms

Mutation

A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses. Germ line mutations occur in the eggs and sperm and can be passed on to offspring, while somatic mutations occur in body cells and are not passed on.

Narration Transcription

Mutation has been the source of many Hollywood movies, but it's really a simple process of a mistake made in a DNA sequence as it's being copied. Some of that's just the background noise that DNA copying is not perfect, and we should be glad of that or evolution couldn't operate. But mutation can also be induced by things like radiation or carcinogens in a way that can increase the risk of cancers or birth defects. But it's pretty simple; it's basically an induced misspelling of the DNA sequence. That's a mutation.

Doctor Profile

Name: Francis S. Collins, M.D., Ph.D.

Occupation: Director, National Institutes of Health; Former Director, National Human Genome Research Institute

Biography: Dr. Francis S. Collins, director of the National Institutes of Health, is noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project, a complex multidisciplinary scientific enterprise directed at mapping and sequencing human DNA. Dr. Collins was the director of the National Human Genome Research Institute from 1993 to 2008. His research has led to the identification of genetic variants associated with type 2 diabetes and the genes responsible for cystic fibrosis, neurofibromatosis, Huntington's disease and Hutchinson-Gilford progeria syndrome. In 2007, Dr. Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research.