Stories about: experimental therapies

Discovering a rare anemia in time to save an infant’s life

Illustration of the erythropoietin hormone. A newly-discovered genetic mutation, which switches one amino acid in EPO's structure, resulted in two cases of rare anemia.
An illustration showing the structure of a cell-signaling cytokine called erythropoietin (EPO). It has long been thought that when EPO binds with its receptor, EPOR, it functions like an on/off switch, triggering red blood cell production. New findings suggest that this process is more nuanced than previously thought; even slight variations to cytokines like EPO can cause disease.

While researching a rare blood disorder called Diamond-Blackfan anemia, scientists stumbled upon an even rarer anemia caused by a previously-unknown genetic mutation. During their investigation, the team of scientists — from the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, the Broad Institute of Harvard and MIT and Yale University — had the relatively unusual opportunity to develop an “on-the-fly” therapy.

As they analyzed the genes of one boy who had died from the newly-discovered blood disorder, the team’s findings allowed them to help save the life of his infant sister, who was also born with the same genetic mutation. The results were recently reported in Cell.

“We had a unique opportunity here to do research, and turn it back to a patient right away,” says Vijay Sankaran, MD, PhD, the paper’s co-corresponding author and a principal investigator at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “It’s incredibly rewarding to be able to bring research full circle to impact a patient’s life.”

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Was it ethical to give two Americans an experimental Ebola therapy?

Ebola response ethics experimental treatment therapy ZMapp
Guinean Red Cross volunteers prepare to decontaminate a hospital in the capital, Conakry. (European Commission DG ECHO/Flickr)

The world paused for a moment when the news broke last week that two Ebola-infected American missionaries working in Liberia had received an experimental therapy called ZMapp. As I write this, both patients are back on U.S. soil, and seem to be responding well to the treatment.

But was it ethical?

That difficult question can be divided into two. First is the question of whether it was ethical to give the two patients a drug that, up to that point, had never been tested in people. The second—in some ways thornier—question is: Was it ethical to give the treatment to two Americans but not the nearly 1,850 West Africans infected in the outbreak (as of August 11)?

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