Jane Gitschier and Seymour Packman discovered the defective gene that causes a copper deficiency leading to Menkes disease. Children who inherit this X-linked disease suffer from neurological degeneration and die during childhood from a deficiency of copper in the brain. Gitschier and Packman determined that copper actually accumulates in the intestines due to an abnormal protein pump unable to transport copper from the intestines to other vital organs.

Jane Gitschier earned her B.S. degree in engineering science at Pennsylvania State University in 1974 and then continued her education at Harvard University where she received her M.S. degree in applied physics. In 1981, Gitschier completed her Ph.D. degree in biology at the Massachusetts Institute of Technology and her postdoctoral research at Genentech where she studied molecular biology under William Wood. Currently, Gitschier resides at the University of California, San Francisco as a professor of medicine and pediatrics.

Gitschier...