Professor Robin M. Winter

Clinical geneticist par excellence

Robin Michael Winter, clinical geneticist: born 26 October 1950; consultant clinical geneticist, Great Ormond Street Hospital for Children 1992-95, Professor of Clinical Genetics and Dysmorphology 1995-2004; married (one son, one daughter); died Bushey, Hertfordshire 10 January 2004.

Writing in the scientific journal Human Molecular Genetics in 1995, Robin M. Winter wryly observed that many human malformation syndromes were the result of alteration in genes, the common characteristics of which were that clinicians charged with making the diagnosis had never heard of them, while scientists identifying and naming these genes had never heard of the conditions.

This was quintessential Winter - amusing, ironic, scientifically incisive and true. His life's work was to foster communication between the disciplines, so that the genetic cause of human disorders would be identified. His distinction and success meant that, by the time of his death aged 53, he had achieved that most rare of outcomes in commanding equally the respect of his colleagues both medical and scientific.

Born into a medical family in the Wirral, Robin Winter was educated at Malvern College where, he was wont to remind colleagues in later years, he shared a room with Jeremy Paxman. Progressing to University College London Medical School, he quickly identified genetics as his chosen field, undertaking an intercalated science degree at the Galton Laboratory. It was here, under the influence of Hans Gruneberg, Gerald Corney , C.A.B. Smith and others that he embraced the ideas which he would spend his whole professional life developing.

His graduation in 1974, and three years' training in paediatrics, preceded an 18-month stint at the Department of Human Genetics in Richmond, Virginia. Returning to England in 1978, he completed his training in clinical genetics at Harperbury Hospital, at Radlett, Hertfordshire, with Dr Michael Baraitser. His first consultant appointment, in 1981, was to the Kennedy-Galton Centre at Northwick Park Hospital, and Harperbury Hospital. His link with Baraitser was one which would never be broken and which was to have a profound influence on the lives and careers of both men.

Winter and Baraitser became synonymous with diagnostic excellence in that most arcane branch of medicine known as dysmorphology. The recognition of clinical syndromes in medicine is frequently based on pattern recognition. Whilst some of the requisite skills can be learned, many are instinctive, Robin Winter perhaps representing the supreme example of this "sixth sense". He not only possessed outstanding clinical abilities in taking a history and examining a child, but had an unmatched "eye" for a syndrome. Combined with his relentless reading of journals, command of detail and his enviable power of recall, these clinical skills led to his being the clinical geneticist par excellence to whom his peers turned for assistance.

The environment which he and Michael Baraitser created at Great Ormond Street Children's Hospital, once he moved there in 1992, was inspirational. The daily work of making diagnoses, counselling families, supporting colleagues and training future generations of geneticists was mixed with his night-time pursuit of writing books, chapters, papers for journals and, perhaps most memorably, the "London Medical Database" series with Michael Baraitser. This monumental achievement, now used in virtually every medical genetics department and medical library in the developed world, was the brainchild of the two men and came to fruition through their expertise and sheer hard work. The resultant computerised resource aids doctors in the identification and management of rare genetic disorders. Well-written, with a weather eye open for grammatical solecisms, which he abhorred, his textbooks and databases have garnered several prizes.

Unassuming and approachable, Winter resisted the temptation, indeed the institutional pressures sometimes exerted, to reduce his clinical workload. Though unconvinced of the benefits to patients or the economic sense of the reforms in the health service, he ruefully acclimatised to the new environment. He enjoyed patient contact and was equally at home explaining a rare condition to an immigrant family from the East End of London, as he was in discussing the condition with his trainees. In both situations his humanity and intrinsic kindness were evident. Young colleagues competed for the opportunity to work with him.

He contributed almost 300 papers to medical journals, many of ground-breaking significance. Co-authors in these endeavours quickly learned that Winter needed to have ultimate jurisdiction in the writing process, even to the final format of words, finding it difficult to entrust others to maintain his own very high standards, and it was only over a long period that a few selected colleagues gained that final measure of his respect and trust which was signified by being allowed to write with him on equal terms.

His achievements were widely honoured within his profession: he gave invited lectures to the Royal College of Paediatrics and Child Health, the American College of Medical Genetics, the American Society of Human Genetics; and served on editorial boards of journals, notably as founding editor of Clinical Dysmorphology. He was awarded the Baschirotto Prize by the European Society of Human Genetics and the Maria Vilma and Bianca Querci Foundation Prize, as well as serving as President of the Clinical Genetics Society.

An intensely private man, Robin Winter rarely allowed emotion to interfere in his work or relations with colleagues. His wry wit and dry humour, allied to his brilliance, made for easy relations with colleagues all over the world. The onset of coronary disease in 1998 caused him to reassess his activities and priorities but he continued to see patients and pursue his research. His final illness, diagnosed in October last year might, in lesser men, have resulted in bitterness. It was characteristic of Robin that he minimised the experiences of this difficult period, reproducing them as subjects of witty e-mails to friends and colleagues.

His family life was a source of great happiness and stability. With his wife, Joan, he enjoyed entertaining friends and colleagues. He spoke warmly of his children, Amy and Henry, in both of whose many achievements he took great pleasure. His daughter has followed him into the medical profession.

Willie Reardon