Columbia University Health Sciences Division
Spotlight
Historical Profile Dorothy Hansine Andersen American paediatrician and pathologist who identified cystic fibrosis. Born in Asheville, NC, USA, on May 15, 1901, she died in New York, NY, USA on March 3, 1963, aged 61 years.
For Andersen’s report on cystic fibrosis of the pancreas see Am J Dis Child 1938; 56: 344–99
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As a tribute to her identification of cystic fibrosis, in 2002, 39 years after her death, Dorothy Hansine Andersen was inducted into the National Women’s Hall of Fame for her contributions to medical science. Her other accolades include the Borden Award for research in nutrition in 1948, the Elizabeth Blackwell Award in 1952, and the Distinguished Service Medal of the Columbia Presbyterian Medical Center in 1963. She was also an honorary fellow of the American Academy of Pediatrics and an honorary chair of the Cystic Fibrosis Research Foundation. But her beginnings were much more humble, and the road to this discovery was not without its hurdles. Born the only child to Hans Peter Andersen, a Danish farmer, and Mary Louise Mason, Dorothy Andersen spent her early years in her hometown of Asheville (NC, USA). Sadly, when Andersen was 13 years old, her father died, followed by her mother 6 years later. Andersen began her education at St Johnsbury Academy in Vermont, before progressing to Mount Holyoke College,
a women-only liberal arts college in South Hadley, MA. Realising her passion for science, Andersen relocated to Baltimore, MD, to study medicine at Johns Hopkins, where she received her medical degree in 1926 in a class with only five other women. In the same year, she produced scientific reports on the female reproductive system of the pig—her topic of interest at that time. She continued her studies, moving to Strong Memorial Hospital in Rochester, NY, where she held a surgical internship, which progressed into a 1 year teaching position at the University of Rochester. Despite her education, eagerness, and dedication to the profession, Andersen was denied a surgical residency because of her sex. Having to rethink her career, she refocused her efforts away from clinical practice and towards medical research, joining the Department of Pathology at Columbia University College of Physicians and Surgeons in Manhattan, NY, in 1930. She spent the next 5 years researching endocrine glands and female reproduction, which eventually resulted in her receiving a doctorate of medical science. In 1935, Andersen moved to the Babies Hospital at Colombia–Presbyterian Medical Center (NY, USA)—now the Morgan Stanley Children’s Hospital of New York– Presbyterian—where she stayed for more than 20 years. She developed an interest in inherited malformations of the heart and collected hearts of infants with cardiac problems from autopsies. It was while engaged in this work that Andersen made the most important discovery of her career. During an autopsy of a child who had presented with coeliac disease—an illness caused by intestinal hypersensitivity to gluten that inhibits digestion— Andersen noted an unexpected lesion in the pancreas. She subsequently dedicated her time to reviewing hundreds of pathology slides from other children believed to have died from coeliac disease and searching the scientific literature for reports of infants with a similar disease state. This research culminated in the identification of a previously unknown disease, which in a 1938 report Andersen termed “cystic fibrosis of the pancreas”. In the report, Andersen describes not only the clinical changes in the pancreas, but also the changes seen in the lungs. She notes “some congestion of the underlying mucosa”, which we now understand to be the thick secretion of mucous that blocks the airways. She also describes infected airways, another important finding in view of present knowledge about the disease pathology of cystic fibrosis. Her findings were “the result of many hours of painstaking work combined with a stroke of insight that changed the plight of children doomed to an early death due to malnutrition and pulmonary infection”, says Brian P O’Sullivan (University of Massachusetts Medical School, Worcester, MA, USA). www.thelancet.com/respiratory Vol 2 March 2014
Spotlight
As a trained doctor, Andersen moved her investigation from the laboratory to the clinic, where she continued to work on diagnosing this new disease in patients. In 1942, she published a report entitled “Pancreatic enzymes in the duodenal juice in the celiac syndrome”, in the American Journal of Diseases of Children. It was in this report that she first described a clinical diagnostic test for cystic fibrosis, which involved an assay of the pancreatic enzymes in the duodenal juice. In 1953, Andersen collaborated with Paul di Sant’Agnese, who was also working at Columbia University, and together they recognised that increased salt content in sweat could be used to identify patients with cystic fibrosis. This discovery led to the establishment of the so-called sweat test, a diagnostic method still used nowadays. In 1958, Andersen was appointed Chief of Pathology at the Babies Hospital and a full professor of pathology at Columbia University. Little is documented about Andersen’s personal life, besides her decidedly unfeminine hobbies—carpentry, hiking, and canoeing—for which she was chided by
some other researchers. She described herself a “rugged individualist”, reflected by the fact that she mostly brought herself up and did not marry, but dedicated her life to her work. Andersen was a heavy smoker and in 1963, despite major surgery, she died of lung cancer. Knowledge about cystic fibrosis grew fairly quickly in the decades after Anderson’s research, most notably with the discovery of the cystic fibrosis transmembrane conductor regulator (CFTR) gene in 1989. Researchers now have an advanced understanding of the molecular defect underlying the disease, which has become the target for both antenatal screening programmes and stratified approaches to treatment. In 2013, the Cystic Fibrosis Foundation released data showing that, as a result of early diagnosis, aggressive treatment, and specialised care, the average life expectancy of a child with cystic fibrosis is now 41·1 years—an achievement that owes a tremendous debt to Andersen’s pioneering work.
For Andersen’s report on pancreatic enzymes see Am J Dis Child 1942; 63: 643–58
Stephanie Clague
Tailings is a short documentary film about the radioactive contamination left behind near the town of Grants in rural New Mexico, USA, in the wake of uranium mining. Director Sam Price-Waldman presents a bleak picture—if the documentary had a colour, it would be a cold grey. However, this documentary is not only a depressing reminder of Grants’ past, but, as the industry prepares to return to the area, serves as a timely warning for the future of nuclear energy, and a cautionary tale about the potential health effects of a failed clean-up. In 1950, a Navajo shepherd, Paddy Martinez, discovered uranium ore in Haystack Mesa, near Grants. The subsequent mining boom (developed with the support of and in coordination with the US Government) lasted until the 1980s and saw Grants crowned the uranium capital of the world. Now, just a few miles outside the town lies the “forgotten problem”, the remnants of the boom. “They are called tailings, and they don’t look too dangerous, but when I found out what was going on, I knew I had to tell people about it”, says Price-Waldman in the film’s introduction. Tailings are the radioactive byproduct of uranium milling and have been linked to lung cancer, thyroid disease, and birth defects. 200 people live around the 22 million ton pile in Grants, and are stuck, unable to sell their houses, and worried about their health. “What would you do if you got a letter saying don’t bathe in this water, don’t drink this water?”
www.thelancet.com/respiratory Vol 2 March 2014
asks one local. Speaking to The Lancet Respiratory Medicine about the clean-up effort, Louis A Schack of Barrick Gold emphasises the challenges of cleaning up a site that was built before modern environmental standards existed and when little was known about the responsible closure of industrial sites. “Today, any mine or processing facility is built only after a defined closure plan and required funding are in place”, he explains. The Homestake Mining Company, which has been merged with Barrick Gold since 2002, promised to have the pile cleared up by 1995, but the expensive clean-up (overseen by the Government) is unlikely to happen before 2022. Schack points to the conflicting federal regulatory oversight and delays in gaining approval for the remediation plan as the main barriers to the clean-up effort. Since three companies have filed intent to start mining and milling in the Grants area, the question on everybody’s lips in the documentary is: “[will] it be any different this time?” This question should also be asked of the companies that have expressed interest in mining uranium in Australia, Botswana, and Turkey. Although mining promises highly paid jobs, this sad documentary about the people stuck living in the tailing’s shadow should serve as a reminder of the importance of safety and responsible clean-up procedures in uranium mining.
Sam Price-Waldman
Film Responsible mining
Tailings Sam Price-Waldman. 2012, USA, 12 min See News page 178
Natalie Harrison
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