Who Discovered Cystic Fibrosis

Cystic fibrosis is a disease that is genetically inherited. In the past infants and children with cystic fibrosis were considered bewitched because of their salty skin and the fact they died at a very young age.

Cystic fibrosis is an inherited disease in which a defective gene and its protein product will cause the body to manufacture thick, sticky mucus. This mucus will clog up the airways in the lungs leading to serious lung infections. The mucus can also affect the digestive system, mainly the small intestine which can cause digestive problems and even malnutrition.

Some of the symptoms of cystic fibrosis include salty tasting skin, chronic persistent cough with phlegm and frequent lung infections. Many people with cystic fibrosis will have wheezing throughout their lungs and may have periods of shortness of breath.

This disease can cause bowel symptoms such as constipation and occasional greasy or bulky stools. A person with cystic fibrosis may not grow or may not gain weight despite a good appetite.

There are about 1,000 new cases of cystic fibrosis diagnosed each year. More than seventy percent of these cases are diagnosed by the age of two. The average life expectancy for a person with cystic fibrosis is now thirty seven years thanks to the advancements in treatments.

Who discovered cystic fibrosis? This is not an easy question to answer since there were so many doctors and researchers that have played a role in bringing cystic fibrosis to national attention.

A Swiss pediatrician named Guido Fanconi first named the disease in 1936. He called it cystic fibrosis with bronchiectasis. However, it was a scientist from Columbia that developed a complete profile of cystic fibrosis symptoms.

In 1938, a comprehensive medical report was written by Dr. Dorothy Hansine Anderson. This report described the characteristics of cystic fibrosis of the pancreas and how it is correlated with lung and intestinal complications associated with this disease. However, the report did nothing to help treatment of cystic fibrosis.

A breakthrough came in 1949 when Dr. Dorothy Anderson discovered that cystic fibrosis is the result of a recessive mutant gene. Once this was determined, research and treatments for cystic fibrosis have been ongoing with great success.

The next major breakthrough in research into cystic fibrosis came in 1989 when scientists discovered the actual gene that is responsible for this disease. This opened up a whole new avenue for treatment and research.

Cystic fibrosis research has produced new medications that can lessen the symptoms of cystic fibrosis. Research into gene therapy is looking very promising. In the next few years thanks to major advancements in technology and research there may be a cure for cystic fibrosis.

RESOURCES

Howard Hughes Medical Institute: Discovering the Gene for Cystic Fibrosis

University of Iowa: Cystic Fibrosis Discovery

Cleveland Clinic: Cystic Fibrosis

Child & Family Research Insitute: New Drug Target Found for cystic Fibrosis Lung Disease

Georgia Health Sciences University: Impaired Blood Vessel Function Found in Cystic Fibrosis Patients