Talking Glossary of Genetic Terms
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. Symptoms usually begin during middle age. The disease is inherited as an autosomal dominant trait, meaning that a single mutated copy of the responsible gene is sufficient to cause the disease.
Huntington's disease is the classic example of what we call autosomal dominant condition, where an affected individual has one abnormal copy and one normal copy of the gene, and therefore their child has a 50 percent chance of inheriting it. This is a tragic and frustrating condition which comes on in mid-life with a progressive neurological deterioration that extends over more than a decade in many cases, and for which at the present time we don't have adequate therapy, but that is a very high priority for the medical research enterprise. The disease clearly at the present time causes all kinds of havoc in the families that are affected by it. And perhaps the most famous person affected by Huntington's disease was Woody Guthrie.
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.