Researched
Philadelphia Chromosome (Leukemia)
In 1960 two Philadelphia scientists saw a tiny abnormal chromosome in the blood cells of leukemia patients, a consistent change that later led to a drug designed to block it.
Open in the interactive tree →David Hungerford and Peter Nowell at the University of Pennsylvania found the abnormal chromosome in chronic myeloid leukemia in 1960. In 1972-73 Janet Rowley showed that it comes from a swap of pieces between chromosomes 9 and 22, and in 1984 Nora Heisterkamp and John Groffen mapped the breakpoint to a fused gene called BCR-ABL. That fusion gene makes a protein that drives the leukemia, and imatinib, approved in 2001 as the first tyrosine kinase inhibitor, was built to block it.
Prerequisites
- Chromosome Theory of Heredity1915Genes sit on chromosomes, so a changed chromosome can mean changed genes.
- Cell Culture and HeLa Cells1951Chromosomes were studied in cells grown and spread out in dishes.
Unlocks
- Targeted Cancer Drugs (Imatinib)2001Imatinib was designed to block the BCR-ABL protein made from the Philadelphia chromosome.