Professor Paul Polani

Geneticist in paediatric research


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.

Caroline Richmond

Start your day with The Independent, sign up for daily news emails
Have you tried new the Independent Digital Edition apps?
ebooks
ebooksAn introduction to the ground rules of British democracy
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
SPONSORED FEATURES
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Recruitment Genius: Senior Environmental Adviser - Maternity Cover

£37040 - £43600 per annum: Recruitment Genius: The UK's export credit agency a...

Recruitment Genius: CBM & Lubrication Technician

£25000 - £27500 per annum: Recruitment Genius: This company provides a compreh...

Recruitment Genius: Care Worker - Residential Emergency Service

£16800 - £19500 per annum: Recruitment Genius: Would you like to join an organ...

Recruitment Genius: Senior Landscaper

£25000 - £28000 per annum: Recruitment Genius: In the last five years this com...

Day In a Page

The long walk west: they fled war in Syria, only to get held up in Hungary – now hundreds of refugees have set off on foot for Austria

They fled war in Syria...

...only to get stuck and sidetracked in Hungary
From The Prisoner to Mad Men, elaborate title sequences are one of the keys to a great TV series

Title sequences: From The Prisoner to Mad Men

Elaborate title sequences are one of the keys to a great TV series. But why does the art form have such a chequered history?
Giorgio Armani Beauty's fabric-inspired foundations: Get back to basics this autumn

Giorgio Armani Beauty's foundations

Sumptuous fabrics meet luscious cosmetics for this elegant look
From stowaways to Operation Stack: Life in a transcontinental lorry cab

Life from the inside of a trucker's cab

From stowaways to Operation Stack, it's a challenging time to be a trucker heading to and from the Continent
Kelis interview: The songwriter and sauce-maker on cooking for Pharrell and crying over potatoes

Kelis interview

The singer and sauce-maker on cooking for Pharrell
Refugee crisis: David Cameron lowered the flag for the dead king of Saudi Arabia - will he do the same honour for little Aylan Kurdi?

Cameron lowered the flag for the dead king of Saudi Arabia...

But will he do the same honour for little Aylan Kurdi, asks Robert Fisk
Our leaders lack courage in this refugee crisis. We are shamed by our European neighbours

Our leaders lack courage in this refugee crisis. We are shamed by our European neighbours

Humanity must be at the heart of politics, says Jeremy Corbyn
Joe Biden's 'tease tour': Could the US Vice-President be testing the water for a presidential run?

Joe Biden's 'tease tour'

Could the US Vice-President be testing the water for a presidential run?
Britain's 24-hour culture: With the 'leisured society' a distant dream we're working longer and less regular hours than ever

Britain's 24-hour culture

With the 'leisured society' a distant dream we're working longer and less regular hours than ever
Diplomacy board game: Treachery is the way to win - which makes it just like the real thing

The addictive nature of Diplomacy

Bullying, betrayal, aggression – it may be just a board game, but the family that plays Diplomacy may never look at each other in the same way again
Lady Chatterley's Lover: Racy underwear for fans of DH Lawrence's equally racy tome

Fashion: Ooh, Lady Chatterley!

Take inspiration from DH Lawrence's racy tome with equally racy underwear
8 best children's clocks

Tick-tock: 8 best children's clocks

Whether you’re teaching them to tell the time or putting the finishing touches to a nursery, there’s a ticker for that
Charlie Austin: Queens Park Rangers striker says ‘If the move is not right, I’m not going’

Charlie Austin: ‘If the move is not right, I’m not going’

After hitting 18 goals in the Premier League last season, the QPR striker was the great non-deal of transfer deadline day. But he says he'd preferred another shot at promotion
Isis profits from destruction of antiquities by selling relics to dealers - and then blowing up the buildings they come from to conceal the evidence of looting

How Isis profits from destruction of antiquities

Robert Fisk on the terrorist group's manipulation of the market to increase the price of artefacts
Labour leadership: Andy Burnham urges Jeremy Corbyn voters to think again in last-minute plea

'If we lose touch we’ll end up with two decades of the Tories'

In an exclusive interview, Andy Burnham urges Jeremy Corbyn voters to think again in last-minute plea