Paolo Emanuele Polani (Paul Emanuel Polani), geneticist: born Trieste 1 January 1914; Assistant to Director, Department of Child Health, Guy's Hospital Medical School 1950-55, Director, Paediatric Research Unit 1960-83; Director, Medical Research Unit, National Spastic Society 1955-60; Prince Philip Professor of Paediatric Research, London University 1960-80 (Emeritus); FRS 1973; Director, South East Thames Regional Genetics Centre 1976-82; married 1944 Nina Sullam (died 1999); died Guildford, Surrey 18 February 2006.
Paul Polani made enormous contributions to clinical genetics. He showed that Down's syndrome and Klinefelter's syndrome were both caused by the presence of an extra chromosome, and he showed that Turner's syndrome is caused by a missing chromosome.
All three are causes of congenital disability. It is thanks to his work that it is possible to screen unborn babies for chromosome abnormalities and genetic diseases. It was thanks to his influence that Guy's Hospital established the Paediatric Research Unit, which he led, and which established Britain in the forefront of genetics research.
In the late 1950s Polani investigated, with Maurice Campbell, the Guy's cardiologist, a form of congenital heart disease called coarctation of the aorta. This is much more common in boys, who have one X and one Y chromosome. When girls had it, it was associated with Turner's syndrome, which included under-developed ovaries, short stature and other problems. He postulated that Turner's syndrome girls had only one X chromosome instead of the normal two. He also postulated that boys with Klinefelter's syndrome, who were tall, lanky and infertile, had an extra X chromosome, i.e. they were XXY. This postulate went against the conventional wisdom about sex determination, which had been established by studying the fruitfly, Drosophila.
The advent of laboratory techniques that could reveal the number of chromosomes in a cell enabled Polani and Campbell to test their hypothesis in Turner's syndrome, and they were shown to be correct. Meanwhile, another group showed that their hypothesis about Klinefelter's syndrome was also correct. Then, with the geneticist Charles E. Ford, Polani found a patient with Klinefelter's syndrome whose body contained a mixture of cells with two X chromosomes, and cells with two X and one Y. This was the first known human example of a phenomenon called mosaicism, and it occurs in 1-2 per cent of patients with Klinefelter's and Turner's syndromes.
Polani was also interested in Down's syndrome. Usually Down's syndrome babies are born to older mothers, sporadically. However, there are a few families in which it is common and unrelated to maternal age. In 1959, a French scientist, Jérôme Lejeune, had shown that Down's syndrome was caused by one too many of a particular chromosome. Polani showed that the form of the disease that runs in families could be caused by a chromosome translocation. These findings provided the impetus for the development of prenatal tests for Down's syndrome, and later for other chromosome abnormalities. Polani was elected a Fellow of the Royal Society in 1973 for this work.
Polani had, in 1955, been appointed research physician to the medical advisory committee of the National Spastic Society, now called Scope. Three years later he was seconded to the World Health Organisation to work on pregnancy wastage, the spontaneous loss of a foetus. This took him to Copenhagen and to the US National Institutes of Health, to which he was a consultant, where he met and exchanged ideas with other international leaders in his field, including Francis Crick, co- discoverer of the structure of DNA.
When the National Spastic Society was developing a broad-spectrum research strategy to prevent a range of neurological diseases of childhood, Polani successfully argued for a multidisciplinary unit with a genetic leitmotif, and the Paediatric Research Unit was established at Guy's Hospital on 1 October 1960. Paul was appointed Director and the first Prince Philip Professor of Paediatric Research. He was also geneticist and honorary paediatrician to Guy's Hospital and its medical school, and ran the South East Thames Regional Genetic Service.
Paul Polani was born in Trieste, at the outbreak of the First World War, the elder and for a decade the only son of a businessman. He had a classical education in Trieste, at the Liceo Francesco Petrarca. From there he went as a medical student to Siena, where he developed his love for genetics while studying under the great biologist Umberto D'Ancona. Polani enjoyed the very close relationship between students and teaching staff at Siena but was awarded a place at the celebrated Scuola Normale Superiore at Pisa. He obtained his "maxima cum laude" MD degree in 1938 with a thesis in neurophysiology. He then spent a year as a junior hospital doctor and obtained his professional registration. By 1 September 1939, when he was fully qualified, his political views were at odds with those of the Fascist government.
He had arrived in London hoping to do postgraduate studies but was prevented by the outbreak of war. Instead, he enrolled as ship's surgeon lieutenant on a merchant vessel bound for the Far East. In 1940, when Italy entered the war, he was interned as an enemy alien on the Isle of Man. Together with two other interned doctors, a psychiatrist and a pathologist, Polani ran the camp hospital.
In March 1941 he was released and appointed medical and surgical officer at the Evelina Children's Hospital in Southwark. He was in charge of the emergency department with responsibility for 100 medical and surgical beds, and remained a popular figure in the locality.
He joined the paediatric department at Guy's Hospital in 1948, funded by a two-year fellowship from the National Birthday Trust. He studied kernicterus, a severe form of jaundice that was once common in newborn babies and which causes brain damage. He also trained in genetics at University College.
For over 20 years he oversaw the development of the Paediatric Research Unit and of the South East Thames Regional Genetic Centre, and it was his passionate mission in life.
In 1942 he met his wife, Nina Sullam, an Italian working for the BBC World Service. They married in 1944. She retrained as a statistician and biologist so that she could collaborate in his research. They had no children. He looked after her devotedly when she developed Alzheimer's disease.
Paul Polani was an inspiration to his staff, a kind, gentle and selfless person with extraordinary intelligence and vision and a steadfast and generous nature. When he retired he continued to write and lecture. He was the author of some 150 research papers and reviews, several written with his wife. The genetics research library at Guy's is named after him.
He enjoyed skiing, reading and riding. He remained active until shortly before his death, aged 92, from an aggressive form of leukaemia.
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