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2009 Genetics Prize

Janet Davison Rowley

Born in 1925 in New York City, Janet Davison Rowley moved with her parents, both educators, to Chicago when she was a toddler—a city that continues to be her home today. An extremely promising student, Rowley earned a scholarship at age 15 to a special early admissions program at the University of Chicago, graduating with a bachelor of philosophy degree in 1944, a bachelor of science degree in 1946, and a medical degree in 1948. Her admission into the university’s medical school was delayed a year because at that time the school limited the number of women who could enroll—three in each class of 65—and the quota had already been filled.

A day after earning her medical degree, at the age of 23, Rowley married Donald Adams Rowley, also a physician. She took a job as a research assistant at the University of Chicago and interned with the U.S. Public Health Service. After the first of her four sons was born in 1952, Rowley began to work only part-time, including as a research fellow at a clinic for children with developmental disabilities. It was there that her life-long interest in the relationship between chromosomes—the structures within cells that carry genetic material—and disease began.

In 1962, Rowley spent a year in Oxford, England, studying a branch of biology called cytogenetics, which deals with the cellular aspects of heredity, especially chromosomes. “My husband was going on sabbatical in England, and I knew I wouldn’t be able to practice medicine there,” she recalls. “But I thought that maybe I could learn about chromosomes and then do some chromosome studies on the patients in the clinic where I was working in Chicago when I returned. A number of those patients were children with Down syndrome.”

Just a few years earlier, a French geneticist had reported that Down syndrome was related to an extra copy of chromosome 21. In addition, two Philadelphia scientists had recently discovered an abnormally short chromosome 22 in the hematopoietic cells of people with chronic myelogenous leukemia (CML). These two findings had triggered new interest in cytogenetics, although most scientists at the time remained skeptical that genetic mutations could cause cancer.

Rowley, however, believed strongly that much knowledge could be gained by investigating the chromosomes of patients with leukemia and other neoplastic disorders. When she returned to the University of Chicago, she joined the hematology department as a three-day-a-week research associate. Over the next decade, she made a number of groundbreaking discoveries, including her landmark finding that the Philadelphia chromosome was not a chromosome deletion, as many scientists had thought, but an exchange (translocation) of segments between chromosome 9 and 22. She soon uncovered more than a dozen similar translocations in other leukemia and lymphoma cells.

The consistency of the occurrence of these translocations in leukemia cells convinced Rowley that they must play a role in triggering the cancer, but persuading other scientists to her view proved challenging. “I became a kind of missionary, saying that chromosome abnormalities were important and hematologists should know about them,” she recalled. “I got sort of amused tolerance at the beginning.”

Today, of course, the entire scientific community is a believer, and dozens of translocations have been identified across different cancers. Rowley’s research laid the foundation for a molecular understanding of cancer—the realization that cancer is a genetic disease. Her work has directly led to the development of effective leukemia treatments, including the drug imatinib (Gleevec), which blocks the abnormal protein produced by the Philadelphia chromosome 9-22 translocation.

Rowley became a full professor at the University of Chicago in 1977. By that time her youngest child was 12 and she had returned to work full-time. A role model and mentor for countless younger scientists, Rowley is known for her kind and energetic guidance of her undergraduate students and postdoctoral fellows. She has been the recipient of many of science’s top professional honors, including the Albert Lasker Clinical Medicine Research Prize in 1998 and the National Medal of Science award in 1999. She was elected to the National Academy of Sciences in 1983. She is a past president of the American Society of Human Genetics and co-founded the scientific journal Genes, Chromosomes and Cancer.

Now an octogenarian, Rowley continues to work in her University of Chicago lab, where she is the Blum-Riese Distinguished Service Professor. “We’re still working on the leukemias,” she says. “There’s a lot of evidence that translocations and other chromosome abnormalities aren’t sufficient to make a cell malignant. We’re looking for the other mechanisms involved.”