I've added in a bit of history on CF. While this is an over simplification of the steps to discovery of Cystic Fibrosis I believe is represents a good idea of how far we've come with breaking down CF to its core in the last 75 years with the bulk of discovery happening in the late 1980's.
Cystic Fibrosis is often called Mucovicidosis, especially in other parts of the world. This refers to the thick sticky mucus produced by the exocrine glands of people with CF.
Its been said that CF has been known for a long time. In northern European folklore there are stories of mothers licking their babies foreheads to see if they were salty; if they were that meant the child had a disease that we know today as Cystic Fibrosis.
No one person discovered Mucovicidosis However, the name Cystic Fibrosis was established in 1938 by Dr. Dorothy Anderson, a pathologist in New York City. She described the changes in the pancreas as cystic or fluid-filled and fibrotic or scarred. Shortly after CF was recognized as a generalized disease in 1943.
Sometime in the 1940's scientists realized that the ductual system in the body were affected. In 1946, after following families with people that had the disease, it was confirmed that the disease was caused by an autosomal (any chromosome other than the sex chromosomes) recessive gene. In the 1980's it was discovered that the malfunction of the epithelial tissue (a sheet of cells that separates different compartments of the body) caused the organs to not work normally.
Scientists started looking for the cause of this salty killer in the 1980's. With a lot of work and dedication scientists isolated the affected gene and found the mutation in the gene that caused the disease in the 1990's. Because the protein produced by the gene influenced chloride movement they named the protein cystic fibrosis transmember regulator (CFTR). In addition they found the DNA abnormality on the long arm of the chromosome 7, a deletion of three nucleotides that causes the gene to lack the amino acid phenylalanine at position 508.
Today, we know that the protein serves as a channel for chloride ions to enter and exit the cell. A faulty or damaged gene produces an incorrect protein that blocks the transport of the chloride ions; this is what causes the symptoms CF patients experience.
Most research is focused around correcting the cells ability to allow chloride ions to enter and exit. The drug Kalydeco which hit the market last year is targeting just that for a small population of CF community. Because Kalydeco has been so successful they are working on pairing it with another drug to hopefully treat those with the Delta F508 mutation which represents nearly 70% of all CF patients.