People in Clinical Genetics

Clinical Genetics is a specialty with a rich history, contributed to by a highly eclectic and interesting group of personalities over the years. Here are a few vignettes that we hope to expand in the future. If you have any suggestions for additions to this page, please  contact the CGS with your ideas (preferably with the biography written!)

  • Cedric Carter - CGS Founder

    Cedric Carter - CGS Founder

    Professor Cedric Carter was director of the Medical Research Council's Clinical Genetics Unit at the Institute of Child Health, London until his retirement in 1982. He died in 1984 at the age of 67.

    It was Cedric Carter who started the Clinical Genetics Society in 1970 and as its first president guided it in the early years. On his retirement the Society honoured his contribution to clinical genetics by establishing The Carter Lecture, the first of which was given in 1984.

    Cedric Carter was a private, modest person, greatly loved by those who worked with him and knew him, who had an enormous influence on clinical genetics. Not only did he train or influence many of those now practising or teaching clinical genetics in Britain but he was also largely responsible for the network of genetic clinics and centres with consultant posts and for the official recognition of clinical genetics as a separate specialty in the NHS. His influence extended abroad, and he helped to establish clinical genetics in many parts of the world and was awarded several honours.

    Cedric Carter developed his interests as research fellow in congenital malformations at the Hospital for Sick Children, Great Ormond Street in 1948. In 1952, as part time research fellow in genetics, he joined Dr Fraser Roberts when he started the genetic clinic at the hospital. He became a member of the scientific staff of the Medical Research Council's Genetic Unit when this was established in the Institute of Child Health in 1957. He was appointed consultant geneticist at the Hospital for Sick Children in 1958 and at Queen Charlotte's Hospital in 1973.

    In 1964 he took over from Dr Fraser Roberts as director of the MRC unit. He was the consultant advisor in genetics to the Department of Health and Social Security from 1972 and professor of clinical genetics in the University of London from 1975 until his retirement.

    Professor Carter's major scientific contributions concerned the common congenital malformations: not only did he contribute greatly to the understanding of genetic influences but he provided the data on which genetic advice is now based. If one traces back to the origin of the figures used for genetic counselling in many of the common congenital malformations, it will turn out to be one of his meticulous family studies. These studies, usually based on a consecutive series of cases presenting at the Hospital for Sick Children, provided reliable data on the incidence of the disorder in first, second and third degree relatives, and allowed him to consolidate the concept of multifactorial inheritance as applied to congenital malformations. A particularly important observation referred to by some as the Carter Effect is the higher incidence in relatives when the index case is the least commonly affected sex. This phenomenon was beautifully demonstrated in his study of pyloric stenosis, where the incidence is highest in the sons of affected women and lowest in daughters of affected men.

    Human genetics was perhaps a more accurate description of his subject because he was deeply interested in the genetic contribution to normal variation, particularly intelligence.

    He wrote over 70 papers reporting original work, over 100 review articles, and over 30 chapters in books, and 3 books.


  • Professor Robin M. Winter

    Professor Robin M. Winter

    The national and international genetics communities were saddened to learn of the death of Robin Winter on January 10th 2004 at the age of 53 from cancer. He was Professor of Clinical Genetics and Dysmorphology at the Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, and was a clinical geneticist at the forefront of the subject. His contributions to medical genetics were outstanding.

    Robin was born in 1950 in Liverpool, into a medical family - his father practised as a consultant radiologist. Whilst at University College London Medical School, Robin undertook an intercalated degree in genetics at the Galton Laboratory. It was a very exciting time - beginning to understand the paradigms of "classical" genetics in the light of developing molecular biology. In his later career, Robin developed and used the synergy between these to identify the cause of human disorders, commanding the respect of both medical and scientific colleagues.

    After House Officer and Senior House Officer appointments, he was a visiting fellow at the Department of Human Genetics, Richmond Virginia, USA for 18 months where he studied under Walter Nance. On his return he took up a senior registrar post, and then was appointed clinical geneticist at the Kennedy Galton Centre at Northwick Park in 1981. In 1992 he moved to the Institute of Child Health and Great Ormond Street Hospital, where he subsequently became Professor of Dysmorphology and Clinical Genetics.

    Robin had a remarkable clinical gift: the ability to delineate, describe and recall faces and patterns of malformations and then to store these in his memory for comparison with patients he met in the clinic. Colleagues throughout the world sought his clinical opinion and his collaboration in research projects. He also had the gift of being able to explain clinical and scientific information to patients, whom he greatly enjoyed meeting, and to enthuse his trainees.

    He contributed almost 300 papers to medical journals on a wide breadth of topics, was an editor of the journal, Clinical Dysmorphology, and co-author of the London Dysmorphology and Neurogenetics Databases. He also created a database to aid the mapping of genes for human malformations through synteny with those in the mouse.

    He was honoured all over the world, including an invitation to be a Distinguished Speaker at the ASHG meeting. He was awarded the Baschirotto Prize by the European Society of Human Genetics in 2001 and the Maria Vilma and Bianca Querci Foundation Prize for paediatric research. He was an active member of the council of the Clinical Genetics Society, and whilst President in 2001-2003 set in train a review of its activities in response to the professional and scientific challenges of the changing practice of clinical genetics.

    Robin had a very British sense of humour. It was characteristic that during his final illness he recounted and minimised his experiences in witty emails to friends and colleagues. This wit was also evident at the Dysmorphology Club meetings at the Institute of Child Health in London. It is difficult to imagine future meetings without him but it is a challenge to us all to make sure his legacy is built upon.

    He spoke warmly of his family which was a source of great happiness: his wife Joan and children, Amy and Henry, in both of whose many achievements he took great pleasure. Amy has followed him into the medical profession. The whole genetics community send them our condolences.

  • Professor Rodney Harris CBE

    Professor Rodney Harris CBE

    Prof Rodney Harris died peacefully amongst his family on Thursday 7th December 2017 aged 85 years. He was one of a pioneering few architects of modern medical genetics and was honoured with a CBE for his contribution.

    Professor Rodney Harris was born in Liverpool in 1932 and went to school in Donald Road, he was evacuated during WWII to Queensferry in North Wales to avoid the bombing but still had the roof blown off his house. Then moving further West to Penmaenmawr he was educated at John Bright grammar school where he was inspired by a botany mistress and a biology master who he described as 'inspirational'. He started higher education at Liverpool Dental School and then switched after three years to Medicine having obtained a first class Honours Degree [ class 1 division1] an intercalated BSc in anatomy, where he got his first real taste of genetics. After spending time around Liverpool at the Southern, Broad Green and Liverpool Royal Infirmary he went to Paris to work with Jean Dausset on HLA typing one of the earliest markers used to identify hereditary disease. He then obtained a Darwin Research Fellowship from the Eugenics Society to work in South West Africa. He also worked in the Niger Delta on Glucose 6 phosphate dehydrogenase deficiency obtaining a doctorate in Medicine (MD). On returning to Liverpool as a Senior House officer at Broad Green he obtained is membership of the Royal College of Physicians then working as a Registrar at the Southern and then Senior Registrar at the Northern. Having returned to work on HLA as a lecturer in Liverpool he replaced Alan Emery in Manchester in 1968 as a reader in genetics. The initial remit was to establish a tissue typing lab for the new transplantation facility using HLA. Rodney built up Medical Genetics in Manchester essentially from scratch starting with just one counselling clinic per week. By the mid-1970s there were tissue typing and cytogenetic laboratories and two nurse-counsellors. Clinical and laboratory genetics was substantially boosted in 1977 by appointing Dian Donnai and Andrew Read and genetic counselling by the appointment of Lauren Kerzin-Storrar.

    "Medical Genetics loses a 'giant' from its formative years"

    Rodney was a formidably adept politician, and from an early stage he built a strong relationship with the Department of Health eventually becoming Consultant Adviser. He attributed this success to his ability to communicate with NHS managers. This influence at the heart of the NHS brought about huge change and increased the impact of medical genetics nationally. The development of integrated Regional Genetics centres with clinicians, scientists and counsellors all working under the 'same roof' owed a very great deal to Rodney's vision and ability to make things happen. In 1985 he spent some time with Prof Robert Williamson (now in Melbourne Australia) who was working on identifying the gene for cystic fibrosis. He was then able to use his influence to ensure that DNA laboratories were even further integrated into Medical Genetics. The Manchester DNA lab being boosted by the appointment of Rob Elles to the service lab and Tom Strachan to the research laboratory. In the mid 1980's Rodney also championed the use of 'genetic registers' to ensure cascading of genetic information and testing across families with a number of genetic disorders. This included a register for Huntington's disease run by David Craufurd. These registers have since been shown by Gareth Evans to improve life expectancy in a number of cancer prone disorders. During this time he also became chairman of the influential Royal College Committee on Medical Genetics. He then went on to set up the Confidential Enquiries into medical genetics in the late 1980's and early 1990's. These focussed on a number of conditions including Down's syndrome, neural tube defects, multiple endocrine neoplasia Type 2A, cystic fibrosis and beta thalassaemia. In his later years he used his great influence in the European arena to help build medical genetics across Europe with a number of EU grants in the 1990's producing the Concerted Action on Genetic Services in Europe, a comparative study in 31 European countries. The 1980s and 1990s were exciting times in Medical Genetics, and Rodney worked tirelessly through these years to strengthen his department's ability to deliver the new developments in research and service. Rodney retired in 1997 at the age of 65. He devoted a great deal of time and energy to Hearing Dogs for Deaf People  acting as a trustee for 6 years until 2006 having struggled with profound  deafness himself for most of his life. He leaves his devoted wife Hilary who worked for many years with him in genetics, as well as their three children Alexandra, Richard and Anne.