A builder of the field of human cytogenetics
Sometimes, a big discovery comes from a microscopic level. When Drs. Murray Barr and E.G. Bertram published an article in Nature regarding their findings of a sex chromatin body, they inspired a whole new era in research and diagnosis of genetic disorders. This discovery of a dark staining spot in the nucleus of female cells, later referred to as the Barr body, revealed the presence of an inactivated and condensed X chromosome, making it possible for the first time to count X chromosomes in a cell and relate that to abnormal chromosomal states. This was the forerunner of the discipline of genetics, and specifically the field of human cytogenetics focussing on the role of chromosome abnormalities in childhood disease.