Talking Glossary of Genetic Terms

Genome

The genome is the entire set of genetic instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the cells' mitochondria. These chromosomes, taken together, contain approximately 3.1 billion bases of DNA sequence.

Narration Transcription

"Genome" is a funny word. Nobody can figure out how to pronounce it. Is it "jeh-NOHM" or "JEE-nohm"? I've heard various opportunities for mispronunciations, some of which are pretty funny. But basically, it is the entire instruction set of an organism; all of the DNA. For humans, that amounts to about 3.1 billion letters of the code--As, Cs, Gs, and Ts--all in the right order, spread across all of those chromosomes.

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.