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Nidhi

The Pathologist in the Basement

Updated: Oct 4

Hello everyone,

I'm Nidhi Gupta, and this is Women Weekly! In this week of discussing the wonderful women in STEM, we are back with yet another incredible story of Dr. Dorothy Andersen who was the first to identify and characterize cystic fibrosis (CF), a genetic disorder that was essentially a death sentence at the time of her discovery in the 1930s.

 

Born in 1901, Dorothy Hansine Andersen pursued her education during an era when women in medicine were rare. She attended Mount Holyoke College, where she developed a love for the outdoors, often involving her friends in strenuous activities like frog hunting and early morning breakfasts in the snow. She was not one to conform to societal norms; rather, she embraced challenges and sought solutions on her own terms. This independence and resilience became the hallmark of her career, as she tackled both scientific and personal obstacles with grace and determination.

dorothy Andersen

Andersen's medical journey took her to Johns Hopkins, where she began her clinical work. Her early research, notably an autopsy report from 1929, may have unknowingly foreshadowed her eventual breakthrough. The autopsy described the death of a 34-year-old man with pneumonia. Years later, she would recognize the patterns of cystic fibrosis- lung disease and pancreatic involvement-that connected the dots to this earlier work. In 1938, Andersen published her first paper describing CF, a disease no one had fully understood until her research brought it to light.


What made Dorothy Andersen remarkable was not only her keen diagnostic ability but also her practical approach to science. She was the first to create a diagnostic test for cystic fibrosis, inserting tubes into the throats of children to check for pancreatic enzymes- an invasive but necessary step that would eventually evolve into the much simpler "sweat test." Andersen was the first to recognize CF as a genetic disorder, an insight that significantly influenced future research into the disease’s molecular basis.


Her work, however, extended beyond mere diagnosis. Andersen was instrumental in developing treatments that extended the lives of CF patients- something previously thought impossible. In an era when CF was practically a death sentence for children, her efforts allowed many to live longer, fuller lives. One of her most notable contributions was mentoring young doctors like Paul di Sant’Agnese, who, under Andersen’s guidance, went on to develop the sweat test for diagnosing CF. This non-invasive test remains a crucial tool in CF diagnosis today, replacing the earlier, more invasive procedures.


Despite these achievements, Andersen’s personal life remains somewhat mysterious. Her manuscript, Ahead of Her Time, found in one of her colleague's basement, offers a glimpse into her unconventional personality. Written by Libby Machol in the 1970s, it provides an intimate look into Andersen’s college years, when she was a self-appointed advocate for outdoor exercise and self-sufficiency. Anecdotes from her life reflect her ingenious nature: when she couldn’t afford expensive camping gear from Abercrombie and Fitch, she simply made her own, hand-stitching a custom sleeping bag with skills learned as a surgical intern. Even in times of illness, Andersen found silver linings. After a severe bout of infectious hepatitis in 1927, she took a year off to travel through Europe, immersing herself in language, art, and culture while convalescing.


One of the most poignant examples of Andersen’s influence comes from the sweltering heatwave of 1948, which hit New York City particularly hard. As children with CF began suffering from heat exhaustion due to excess salt loss, Andersen and her team realized the crucial link between the disease and electrolyte imbalance. This led to the development of the sweat test, which proved to be one of the most significant advancements in CF diagnosis. Andersen and her mentee, di Sant’Agnese, both contributed to this discovery, though di Sant’Agnese received most of the credit for many years.


 

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