Cystic Fibrosis Research

What Is Cystic Fibrosis?

Cystic fibrosis (CF) is an inherited disease that causes mucus to build up and clog some of the body’s organs, particularly the lungs and pancreas. Normally, mucus is a slippery, watery substance made by the lining of some body tissues. A defective gene causes mucus in CF-afflicted people to become thick and sticky.

With mucus-clogged lungs, breathing becomes difficult, and bacteria caught by the mucus in the airways can cause inflammation and infections, and ultimately, permanent lung damage. The thick, sticky mucus also obstructs tubes, or ducts, in the pancreas, hindering release of digestive enzymes and creating vitamin deficiency and malnutrition as the body fails to break down and absorb nutrients from ingested foods.

CF also causes the body’s sweat to become very salty. The significant salt loss during sweating can upset the body’s balance of minerals and lead to a number of health problems, including dehydration, increased heart rate, fatigue, weakness, decreased blood pressure, and heat stroke. People with cystic fibrosis are also at increased risk for diabetes, osteoporosis, and fertility difficulties.

In addition to the lungs and pancreas, CF can impact the liver, intestines, sinuses, and sex organs. The systems and severity of CF vary from person to person and over time. Researchers have uncovered more than 1,000 defects that can affect the gene that causes CF. The type of defect and other genetic factors may influence the disease’s severity.

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What are the Risk Factors?

A person with CF must inherit two copies of the defective gene – one from each parent. Children who inherit one gene causing CF from one parent and a normal gene from the other parent are “CF carriers” and usually live normal lives without symptoms of the disease. However, carriers can pass the defective CF gene to their children. According to the National Institutes of Health (NIH), about 12 million Americans carry a faulty CF gene, many without realizing it.

CF affects both males and females from all racial and ethnic groups. According to the NIH, the disease is most common among Caucasians of Northern European descent. NIH data also show CF-afflicted people in the United States number about 30,000. About 1,000 new cases of CF are diagnosed each year.

The Cystic Fibrosis Foundation (CFF) estimates more than 70 percent of children with CF are diagnosed by age two. The foundation also reports that 45 percent of the CF population is aged 18 years or older.

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Currently, there is no cure for CF. However, specialized medical care, aggressive drug treatments and therapies, and proper nutrition can lengthen and improve the quality of life for those with the disease.

Advances in research, treatment, and care have extended the average lifespan of people with CF. In 1955, children with CF were not expected to live long enough to attend grade school. Today, many people with the disease can expect to live into their 30s, 40s, and beyond.

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Recent Cystic Fibrosis Research and News at The Scripps Research Institute

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Links for General Cystic Fibrosis Information

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