Cystic Fibrosis (CF)
Cystic fibrosis (CF) is a chronic, progressive, frequently fatal disease that primarily affects the respiratory and digestive systems in children and young adults. It is one of the most common genetic (i.e., inherited) diseases in America and one of the most devastating.
In CF patients, a defective gene causes the body to produce an abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. These thick secretions also obstruct the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food. CF also can cause reproductive problems; more than 95% of men with CF are sterile.
People with CF have a variety of symptoms including: very salty-tasting skin; persistent coughing, at times with phlegm; wheezing or shortness of breath; an excessive appetite but poor weight gain; and greasy, bulky stools. Symptoms vary from person to person due, in part, to the more than 1,000 mutations of the CF gene.
Existing therapies and drugs can help alleviate the symptoms of CF.
Lung transplants can help extend the lives of victims. And, CF is
one of the diseases that may someday be helped by the new realm of
gene therapy. However, there is currently no cure.
Human and Social Costs
According to the data collected by the Cystic Fibrosis Foundation, about 30,000 Americans – mostly children – currently suffer from CF. About 1 in every 20 Americans is an unaffected carrier of an abnormal "CF gene." Thus, some 12 million people are unaware that they are carriers.
In the past, most children with CF did not reach adulthood. Today, improved therapies have extended the average life expectancy of people with CF, but the average life expectancy is still only 32 years.
The cost of care for a person with CF is often tens of thousands of dollars per year, creating a huge burden for their families. In 2000, a child or young adult with a mild case of CF, faced approximately $30,000 in annual medical care and prescription costs.
The Potential for Stem Cell Cures and Therapies
Stem cell research offers the potential to help CF victims in several ways.
For example, at the basic research level, scientists believe that the development in the lab of “mutant stem cells” with CF-like characteristics could help shed light on potential new treatments. Such stem cells were recently created by stem cell researchers in the United Kingdom.
In 2003, stem cell researchers in the U.S. demonstrated that blood- and marrow-derived human stem cell transplants results in spontaneous cell regeneration in damaged lung tissue. This finding could eventually a huge impact on the treatment of many devastating lung diseases, including cystic fibrosis.
In another recent breakthrough, human embryonic stem cells were coaxed into becoming lung cells, suggesting that pluripotent stem cells could be used to repair lungs damaged by conditions like CF.
Some studies also indicate that stem cells could play an important role in the delivery or effectiveness of potential gene therapy treatments.
Partial List of Sources:
Cystic Fibrosis Foundation
"CYSTIC FIBROSIS: Stem cells shown to regenerate damaged lung
tissue for first time."
Health & Medicine Week, September 15, 2003
Cystic Fibrosis Research, Inc.
The Cystic Fibrosis Center at Stanford
United States Adults Cystic Fibrosis Association
Cystic-L Research News
National Heart, Lung and Blood Institute
"Stem Cell Identification for Cystic Fibrosis Gene Therapy."
Medical Research Council, Human Genetics Unit, Edinburgh U.K.
"Gene therapy targets cystic fibrosis." BBC News, Sunday,
October 20, 2002
"The potential for stem cell therapy in cystic fibrosis."
Journal of the Royal Society of Medicine, Vol. 97 2004