Paul Emanuel Polani: an indefatigable man of medium height and athletic constitution, with piercing brown eyes and warm, gentle manners; a sharp, deeply cultured intellect with an unquenchable desire to learn; a mind always seeking deeper understanding through study, observation and correlation; a person of deep controlled emotions, lasting affections, strong morals, and profound respect for his fellow human beings; a life affected by the troubled Italian politics of the 1920s and 1930s, and forced by war to delay dreams of genetic research and to show instead great medical and surgical prowess. In his late thirties Paul Polani began to fulfil his research dreams. He realized that, contrary to expectations, sex determination in humans did not follow the Drosophila-based model, because humans with an XO sex chromosome complement are female, while those with a Y chromosome are male even when they have two X chromosomes. He also discovered that Down syndrome is sometimes caused by chromosomal translocations that, if inherited from unaffected carriers, may cause familial clustering of the disease. This was the first stimulus to the development of prenatal chromosomal tests. Then in 1960 he established a multidisciplinary unit at Guy's Hospital, London, to investigate diseases of mainly genetic aetiology, and apply research findings to clinical care, while adhering to clear ethical principles. In doing so he demonstrated originality, breadth of vision, and inspiring leadership, and is rightly considered one of the most influential founders of modern medical genetics.
- © 2016 The Author(s)
Published by the Royal Society