4. Identification of cystic fibrosis
Photo from NYPL Digital Collections.
In 1935, Dr. Dorothy Andersen, chief of pathology at Presbyterian Hospital, first identified cystic fibrosis after performing an autopsy on a child who may have died from celiac disease. Cystic fibrosis is a disorder in which mucus builds up in the lungs, affecting mucous glands and pancreatic enzyme production. She also discovered the cystic fibrosis was a recessive disease, meaning both copies of the gene for a particular cystic fibrosis protein are mutated. She published her findings in the 1938 article “Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: A Clinical and Pathological Study.”
In 1951, Andersen also discovered that children with cystic fibrosis often died due to severe salt depletion during a major heat wave, which prompted Dr. Paul di Sant’Agnese, pediatric pathologist at Columbia, to discover that cystic fibrosis patients often had saltier sweat. This led to the development of the commonly used sweat test to diagnose cystic fibrosis.