Cystic Fibrosis: History Make an Appointment Refer a Patient Ask a Question Reviewed by Sara Brayshaw, RN, MSN (October 01, 2019) The earliest reference to cystic fibrosis is in medical texts around 1595. These texts linked salty skin and damage to the pancreas with death in infants and young children. CF First Described In 1938, American pathologist Dr. Dorothy Andersen provided the first description of the disorder in the medical literature, calling the disease “cystic fibrosis of the pancreas” based on her autopsy findings of children who died of malnutrition. Other physicians of the era referred to the disease as “mucoviscidosis,” which called attention to the presence of thickened mucus. The modern history of CF is dominated by the definition of the underlying genetic defect and the rapid increase in survival following the introduction of improved therapies. In a New York City emergency room, during a heat wave in the summer of 1948, Dr. Paul di Sant’Agnese observed infants who were dehydrated. He discovered that the sweat of children with CF had abnormally high concentrations of salt. In the 1980s, the protein defect was described, and the responsible gene (CFTR) was identified and its genetic code sequenced. With each decade, new therapies have been introduced, leading to a dramatic increase in survival. Increased Public Awareness In recent years, public awareness of CF has risen dramatically. In the 1950s and 1960s, a variety of organizations were formed worldwide to educate patients, families and the public about CF. In particular, the Cystic Fibrosis Foundation (United States) has played a significant role in developing the current model of CF care, as well as providing financial support for much of the current CF-related research and drug discovery. More recently, public attention has been drawn to new treatments that are improving quality of life and extending the lifespan for patients with CF. Cystic Fibrosis: FAQs Cystic Fibrosis: Research Clinical Trials For more than 100 years, National Jewish Health has been committed to finding new treatments and cures for diseases. Search our clinical trials.