Janet Rowley
Working part-time at her dining-room table in 1972, she showed the Philadelphia chromosome in CML is a swap between chromosomes 9 and 22. Cancer had a genetic cause, and imatinib later hit the fused gene.
Janet Rowley (1925-2013) entered medical school at the University of Chicago at 19 and for years worked part-time while raising four sons. Using new banding stains in 1972, she showed that the abnormally short Philadelphia chromosome in chronic myeloid leukaemia, described by Peter Nowell and David Hungerford in 1960, was not a deletion but a reciprocal translocation between chromosomes 9 and 22, and she went on to identify the t(8;21) translocation in acute myeloid leukaemia and the t(15;17) in acute promyelocytic leukaemia. Her papers were initially rejected as coincidence. They established that specific genetic changes cause specific cancers; the 9;22 fusion was later shown to create the BCR-ABL kinase that imatinib inhibits, and the 15;17 fusion explained the response of APL to retinoic acid. She received the Lasker Award in 1998, the Presidential Medal of Freedom in 2009 and the Japan Prize in 2012, and worked until shortly before her death from ovarian cancer.
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