History of Cystic Fibrosis
Cystic fibrosis may have been affecting humans since the dawn of human existence, nobody is really sure. The reason for this disease is because of a genetic mutation that occurred in the Cystic Fibrosis Transmembrane Conductance Regulator, also known as the CFTR gene. Since that mutation, for whatever reason, it has been passed down from generation to generation. Many medical researchers believe that the original mutation may have happened as far back as fifty-two thousand years ago, but cystic fibrosis was recognized as an actual disease only within this past century. For those of you that do not have too much familiarity with the history of cystic fibrosis, here are some key points.
1. Somewhere between 50,000 B.C. and the present – The mutation occurred in the CFTR gene. Because of this, anybody that has this mutation does not have a defense against cystic fibrosis. People knew that things like salty skin were cause for concern, but nobody was able to place it as a symptom of disease. Many people believed that related deaths occurred because of curses or hexes, and there was definitely no understanding of genetics at the time.
2. 1938 – 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.
3. 1943 – While in cystic fibrosis was gaining recognition in 1938, it was not until 1943 that it was considered a legitimate disease. After this consideration, it became more of a concern to physicians and citizens, and much more research started to be pursued.
4. 1952 – Changes in sweat were noticed in CF patients by Paul di Sant’ Agnese. From that point on until 1962, a sweat test was developed and perfected. The test measured the sweat electrolytes in a patient’s body to see if they were affected by CF or not. If there were abnormalities, then the physician would know that something was wrong.
5. 1988 – The first mutation that causes CF was found at the Hospital for Sick Children. This hospital, located in Toronto, has done a significant amount of research on childhood ailments. Since that first mutation, there have been more than a thousand other mutations that have been found that are known causes of CF.
6. 1989 – The same team that found the mutation in 1988 found the gene that was directly responsible for cystic fibrosis. The team was headed by Tsui Lap-chee, a Chinese geneticist. He is now the Vice-Chancellor of the University of Hong Kong.
Hopefully this brief history lesson gave you a better understanding of this disease.