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The 1930s can be said to be the period of discovery for cystic fibrosis. What is considered to be the earliest paper written on the disease was made by Swiss pediatrician Dr. Fanconi. The doctor called the illness “celiac syndrome,” which he defined as changes in the pancreas as observed in children.The term cystic fibrosis was coined by Dr. Dorothy Andersen of the Babies’ Hospital New York. She was the first doctor to give the disease its earliest definitive description.
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This was the year that CF was recognized as existing. There have been lung infections, heart failure, and pancreas diseases for many years, but cystic fibrosis being viewed as a cause took until 1938 to figure out. Dorothy Hansine Anderson wrote about cystic fibrosis of the pancreas, and began connecting the dots and hypothesized that the lungs were involved as well. She wrote papers on the subject, and even speculated that the disease was recessive, that later turned out to be true.
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Drs. Sidney Farber and Harry Shwachman connected the abnormal secretion of mucus to the disease. The idea that Vitamin A is the underlying cause of cystic fibrosis was challenged by a number of researchers, including Dr. Anderson, the person who proposed it in the first place. The use of antibiotics, particularly penicillin, became part of the treatment for this condition.
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The 1950s saw the beginnings of the sweat test, the standard test now used for diagnosing CF. The test was developed as a result of discoveries made by Dr. Paul di Sant’Agnese during the heat wave in New York in 1950.In 1955, Dr. Shwachman laid the foundation for the modern way of treating cystic fibrosis, which was early diagnosis, active early treatment and proper nutrition. Also, Dr. Archie Norman began studies on high fat diets in treating the disease in London that year.
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In 1952 Paul di Sant' Agnese discovered abnormalities in sweat electrolytes; a sweat test was developed and improved over the next decade.
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The 1960s is the period when organizations specializing in cystic fibrosis research were formed. These organizations were initiated by parents of children afflicted with the disease, as well as the rare patients who lived to see adulthood.
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Preliminary work on proper neonatal screenings for diagnosis was the hallmark of the 1970s. This was also the decade that saw the mushrooming of many more specialized clinics for cystic fibrosis, as well as the advocacy for high-fat diets to treat the condition. The Cystic Fibrosis Foundation in the United States also pioneered the use of the patient registry during this decade.
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Further advancements in treating the disease occurred during the 1980s. It was also during this decade that the greatest finding on the disease, none other than the discovery of the cystic fibrosis trans-membrane conductance regulator gene, was made (this was in 1989).
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The first linkage between CF and another marker (Paroxonase) was found in 1985, indicating that only one locus exists for CF Hans Eiberg.
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In 1988 the first mutation for CF, ΔF508 was discovered by Francis Collins, Lap-Chee Tsui and John R. Riordan on the seventh chromosome. Subsequent research has found over 1,000 different mutations that cause CF.
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In 1989 Lap-Chee Tsui led a team of researchers at the Hospital for Sick Children in Toronto that discovered the gene responsible for CF. Cystic fibrosis represents the first genetic disorder elucidated strictly by the process of reverse genetics.
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Use of gene replacement therapies began as part of the treatment for cystic fibrosis. Also, the Food and Drug Administration approved the use of the mucolytic Pulmozyne, the first drug designed to target cystic fibrosis.
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Further research is being made by various agencies concerned with CF. The median life expectancy has reached 37 years in 2005, compared to a mere five years around 50 years ago.
