Evolution of Cystic Fibrosis

January 21 ~ Written By Aabha Vadapalli

What is the first thing you do everyday morning? For most people, it would be brushing teeth or making the bed. However, a number of people are forced to start their morning with a treatment with an inhaler to dilate airways. The reason for this is, a fatal disease, cystic fibrosis. Cystic Fibrosis is a genetic disease that affects the lungs, pancreas, and other organs. It is caused by a defective gene that makes the body produce an abnormally thick and sticky fluid, called mucus. Today, there are over 40,000 people, living with cystic fibrosis, and tens of thousands of others who have died. And now, to gain a better understanding of how this disease has come to where it is today, let us explore it origins and the development of its treatments (Brayshaw).

The first references to cystic fibrosis are from medical documents from 1595. The documents described a disease with symptoms such as damage to the pancreas, with death in young children. Later, American pathologist, Dr. Dorothy Anderson, called the disease “Cystic Fibrosis of the Pancreas” in 1938. While the disease was identified and symptoms were recognized, doctors still didn’t understand how the disease was transmitted. In the 1950s and 60s, research concerning treatments and causes of cystic fibrosis was funded. Awareness programs such as the Cystic Fibrosis Foundation were created. It was only in 1980, when scientists found the cause. That it was a genetic disease caused by a protein defect. The responsible gene, CFTR, was identified and its genetic code sequenced (Brayshaw).

Once the cause of cystic fibrosis was identified, treatments were developed. In 1993 the Food and Drug Administration approved Pulmozyme, a drug that thins the mucus in the lungs of patients (Our History). This caused the average death age in the US to rise from 14 to 30 (Pinkerton). In 1997, the FDA approves TOBI, the first antibiotic designed for improving lung function in patients. In 2000 the Cystic Fibrosis foundation invested $40 million in Aurora Biosciences, to fund development of the first therapies to treat cystic fibrosis (Our History). As a result, the average death age rose to 40 (Pinkerton).

Today, in 2023, the drugs and treatments to combat cystic fibrosis have advanced a great deal. People are now looking into cures for cystic fibrosis using the new gene editing technology. Treatments for cystic fibrosis are improving every day at a rapid rate, and it is because of these advancements that so many patients can dream of a future today (Our History). However, there are still thousands of people outside the US without access to treatments, many children, who are dying every day. Therefore, I encourage you to read more about this disease and spread awareness to help the thousands of patients around the world.

References

Brayshaw, Reviewed by Sara. “Cystic Fibrosis: History.” National Jewish Health, https://tinyurl.com/nhdx5t5d.

“Our History.” Cystic Fibrosis Foundation. https://www.cff.org/about-us/our-history.

Pinkerton, Kent. “Cystic Fibrosis Life Expectancy Statistics.” Disabled World, Disabled World, 11 June 2013, https://tinyurl.com/bdhhpbmc.