Paul Polani was one of the key figures in the development of medical genetics, in Britain and internationally. He was born in Trieste, the son of Enrico Polani and Elisabetta née Zennaro, and educated in Trieste, Siena and Pisa, where he undertook a research thesis and qualified in medicine from the Scuola Normale Superiore.
In 1939 he went to the UK to pursue postgraduate studies, but hopes of this were dashed by the outbreak of war and further by Italy’s entry to it. Polani was interned as an enemy alien, but was later released for medical work, since his Italian medical degree was reciprocally recognised in Britain. He spent the rest of the war years as a resident medical officer to the Evelina Children’s Hospital in Southwark, being responsible for all medical and surgical emergencies.
After the end of the war, he was persuaded by the nearby Guy’s Hospital paediatricians to take the MRCP examination, which he did in 1948. He then undertook a research fellowship at Guy’s Hospital and also developed close links with the Galton Laboratory, headed by the pioneer human geneticist Lionel Penrose [Munk’s Roll, Vol.VI, p.375], which gave him a firm theoretical grounding in human genetics.
Polani’s initial research was on the biological basis of kernicterus, at that time a frequent cause of cerebral palsy, but he also undertook a major study of the genetic basis of congenital heart disease, jointly with Guy’s cardiologist Maurice Campbell [Munk’s Roll, Vol.VI, p.86], and strongly influenced by Penrose’s genetic approach and research design. Apart from the overall study, an aspect of special importance noted and followed up by Polani proved to be the frequent occurrence of girls with Turner syndrome in the series of patients with coarctation of the aorta, even though this was otherwise principally seen in males. Polani suspected that Turner syndrome might result from a sex chromosome abnormality and in a larger series he was able to show first that they were sex chromatin negative (1954) and then that they showed a male frequency of red-green colour blindness (1956). His views were confirmed when full human chromosome analysis became possible and in conjunction with Charles Ford at Harwell he showed that Turner patients had an XO chromosome constitution. This finding also completely altered concepts of normal human (and mammalian) sex determination, which had previously considered lack of a Y chromosome to be insignificant.
Polani continued to work on sex chromosome disorders, but in 1960 he made another key observation, showing that the small group of Down’s syndrome patients born to younger mothers could be chromosomally distinct, based on a translocation involving chromosome 21, rather than on trisomy.
In 1960 the Spastics Society decided to fund a major research centre at Guy’s Hospital and appointed Polani as its director, a remarkably far-sighted move for a relatively small charity, especially since they backed Polani’s vision for an institute focused on basic as well as applied research, with genetic approaches as the foundation. Under Polani’s leadership this institute, the paediatric research institute, rapidly grew to become the foremost all-round medical genetics centre in Britain, also taking advantage of National Health Service funding to provide a comprehensive medical genetics service for the South East Thames region.
Polani was widely honoured for his work in Britain, Italy and across the world, becoming a fellow of the Royal Society in 1973. He was awarded the Baly medal of the Royal College of Physicians in 1985, gave the Langdon Brown memorial lecture in 1984 and the Harveian Oration in 1988.
Paul Polani was greatly loved as well as respected at Guy’s Hospital, his adopted home for more than 50 years, and he kept in close contact after his retirement in 1983. The genetic research library was renamed in his honour in 1982. His former colleagues at Guy’s marked his 90th birthday in 2004 with a celebratory dinner and, in November 2005, he was invited, to his great pleasure, to open the new genetic laboratories.
Paul Polani remained exceptionally active to the end of his life, especially enjoying skiing, literature and music. He and his wife Nina, whom he had met and married during the war while she was working for the BBC, also enjoyed equestrianism for many years, keeping horses at their home in the country near Guildford. She died in 1999. They had no children.
Peter Harper
[gkt Gazette Feb/March 2006;Bulletin of the Royal College of Pathologists 135: July 2006, p.47-48;The Lancet 2006 367 1138;The Independent 21 March 2006;Brit.med.J., 2006 332 670;The Times 28 February 2006]