- Person
- Gerty Cori
- Lived
- 1896–1957
- Field
- Biochemistry
- From
- Czech-American
The story
In 1947, around the time she shared the Nobel Prize with her husband Carl for discovering how the body breaks down glycogen, Gerty Cori learned that she had myelosclerosis, an incurable disease of the bone marrow. She continued working for another ten years, and in that last decade she turned her knowledge of glycogen to a group of sick children.
Doctors had described children whose livers and other organs were swollen with glycogen, the body’s stored form of sugar, which they could not break down when they needed it. The condition had been treated as a single disease. Gerty Cori had already discovered, in her laboratory at Washington University in St. Louis, the branching and debranching enzymes that build and dismantle the branch points of glycogen. She reasoned that the children must be missing one of the enzymes that handle it.
Analysing liver samples from patients, she and her colleagues found in 1952 that in one form of the disease, now known as von Gierke disease, the liver lacks the enzyme glucose-6-phosphatase, which releases free glucose into the blood. In a Harvey Lecture that year she described four forms of glycogen storage disease, each linked to a different enzyme or to a separate pattern of illness, and showed by staining that the stored glycogen itself differed in structure from patient to patient. Her graduate student Joseph Larner had bet on a different missing enzyme; in fact each of them was right about a different form of the disease.
According to the Jewish Women’s Archive, this last research project established for the first time that the lack or impairment of a single enzyme could cause a disease. Her final paper, a review of glycogen storage disease, was published in 1957, the year she died.
Her approach, tracing an inherited disease to one faulty enzyme, became the model for understanding the many inborn errors of metabolism identified since.
Why it matters
Linking inherited diseases to specific missing enzymes made precise diagnosis possible and became the model for understanding many inherited metabolic disorders.
About Gerty Cori
Prague-born biochemist who mapped how the body stores and burns sugar, the Cori cycle, and first proved a missing enzyme can cause disease. First woman to win the Nobel Prize in medicine.
More about Gerty Cori
Sources
- Meet the Nobel-winning biochemist who uncovered how the body stores and consumes sugars ASBMB Today
- Gerty Theresa Cori Jewish Women’s Archive
- Gerty Cori Wikipedia
Another act of tikkun olam. This is part of tikkun olam, the Jewish idea of repairing the world, and every one of us can add to it.