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Pathways to Discovery: Winter 2014

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Celebrated Cancer Geneticist Dr. Janet Rowley and Her Remarkable Legacy

Janet D. Rowley, MD, DSc (1925-2013), the Blum-Riese Distinguished Service Professor of Medicine, Molecular Genetics & Cell Biology and Human Genetics at the University of Chicago, was well known for establishing the connection between the development of cancer and genetic abnormalities.

Before Dr. Rowley, few scientists suspected that chromosomal aberrations caused cancer. Beginning in the 1970s, however, she made a series of fundamental discoveries demonstrating that specific chromosomal changes caused certain types of leukemia.

Changing the Paradigm
Dr. Rowley’s discoveries changed the way cancer was understood, opened the door to development of drugs directed at the cancer-specific genetic abnormalities, and created a model that still drives cancer research.

“Janet Rowley’s work established that cancer is a genetic disease,” said Mary-Claire King, professor of genetics and medicine (medical genetics) at the University of Washington and president of the American Society of Human Genetics. “She demonstrated that mutations in critical genes lead to specific forms of leukemia and lymphoma, and that one can determine the form of cancer present in a patient directly from the genetic changes in the cancer. We are still working from her paradigm.”

Nevertheless, she struggled for years to convince fellow researchers. “I became a kind of missionary,” she often recalled, preaching that chromosome abnormalities were important and hematologists should pay attention to them.

“I got sort of amused tolerance at the beginning,” Rowley said. But thanks to her persistence and a long list of related discoveries, her ideas gained credence. Eventually, they brought her widespread recognition, including the Lasker Award, the National Medal of Science, and the Presidential Medal of Freedom.

A ‘Hero to Many’
“Janet Rowley is a hero to many, including me,” said Brian J. Druker, MD, director of the Oregon Health & Science University Knight Cancer Institute. “Her groundbreaking work on the identification of the reciprocal translocation between chromosomes 9 and 22 in patients with chronic myelogenous leukemia allowed the development of the life-saving treatment Gleevec for this disease.”

“Janet Rowley was a pioneer in what is now called ‘translational research,’ the direct application of laboratory studies to understanding and treating human disease.” said Richard L. Schilsky, MD, a former colleague at the University of Chicago, and now chief medical officer of the American Society for Clinical Oncology. “She laid the foundation for personalized cancer care and targeted therapy.”

“She developed the Rosetta Stone that has enabled us to begin to dissect leukemias and lymphomas, to understand their progression and how they respond to treatment,” said blood cancer specialist Richard Larson, MD, professor of medicine at the University of Chicago. “Within my practice lifetime, her discoveries have led to the development of medicines that dramatically altered the management of fatal diseases like chronic myelogenous leukemia. We can now treat those patients on an outpatient basis with oral drugs that are well tolerated and highly effective.”

A Lasting Impact
She also had an impact on the relationship between medical research and public policy. President Jimmy Carter appointed her to the National Cancer Advisory Board (1979‑1984). President Bill Clinton awarded her the National Medal of Science (1998). From 2002 to 2009, she served on George W. Bush’s President's Council on Bioethics. In 2009, she stood next to President Barack Obama when he lifted the federal moratorium on funding for stem cell research and she returned to the Obama White House later that year to accept the Presidential Medal of Freedom.

“Janet has been a mentor for her colleagues as well as her trainees and an ongoing example of scientific wisdom and imagination combined with impeccable professional and personal style,” said Michelle Le Beau, PhD, Arthur and Marian Edelstein Professor of Medicine and director of the University of Chicago Medicine Comprehensive Cancer Center. “She received just about every imaginable honor. Yet she remained breathtakingly humble, giving most of the credit to her colleagues, her students, and luck.”

Dr. Rowley died from complications of ovarian cancer on December, 17, 2013, at her home. She was 88.

Ernst Lengyel