Talking Glossary of Genetic Terms

Complex Disease

A complex disease is caused by the interaction of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of complex diseases include cancer and heart disease.

Narration Transcription

In a way, it's sort of funny that any disease would be called not complex, so this is one of those terms that initially seems a little odd, but in our own parlance--and geneticists have their own way of thinking about things--complex disease really is supposed to conjure up in your mind that this is not a simple Mendelian single-gene disorder. It's messier than that. A complex disease would have many genes involved, often significant environmental contributions involved. You might also say it's polygenic, another word that says multiple genes contributing. We're talking about diseases like diabetes, or the common cancers, or heart disease, where you don't expect it's going to be as simple as one glitch in the genome causing the condition.

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.