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Dr Anne H Child
Research Areas
Biography Dr Child graduated in Medicine from the University of Toronto in 1966, specialising in paediatrics, studied in Vancouver, New York and San Francisco. A growing interest in prevention of disease through genetic counselling and early diagnosis lead her to specialise in clinical genetics, firstly in Montreal ( McGill University), then at the Institute of Child Health, Hospital for Sick Children, London. Counselling experience and an interest in Marfan syndrome were gained in the Paediatric Research Unit at Guy’s Hospital, and entry into the field of Marfan syndrome research commenced. Co-founding the Marfan Association UK lead to co-discovery of the Marfan syndrome gene in 1991, and the present major interest in diagnosis and management of Marfan syndrome and related disorders. The Sonalee Laboratory provides the molecular genetics research and diagnostic arm of this group and offers mutation identification to the 2500 UK families known to have Marfan syndrome, through association with the regional diagnostic unit in the Medical Genetics division at St George’s Hospital. Dr Child holds diagnostic clinics at St George’s Hospital, Harefield Hospital ( Middlesex) and the Brompton Hospital, London. Dr Child is leading a team of 8 clinical and laboratory staff involved in basic research into the genetic causes of the following disorders for which national clinical databases are held in her unit: Marfan syndrome; Beals syndrome; congenital, juvenile and adult onset glaucoma; congenital and pubertal onset lymphoedema; lipoedema; and recently commenced, familial abdominal aortic aneurysm. Each of these research areas involves membership in an international collaborative team, in most instances co-founded by Dr Child. Thus, international solutions to international health problems are provided by her work. Dr Child is the author of 80 peer reviewed articles and invited contributions. She is also involved in training medical and nursing students within the Medical School and St George’s Hospital and at the Harefield and Brompton Hospitals, at undergraduate and postgraduate level. Her wide-ranging literature written for different specialties involved in the care of Marfan syndrome patients has been distributed to these specialties throughout the UK, and indeed worldwide. This work has also been translated into every major European language and made available to European patients and physicians through the chain of Marfan syndrome support groups, which Dr Child has helped to establish. Research Interests
Dr Child’s research has focused on 9 main areas:
With the advent of molecular genetics, the field of cardiovascular research was revolutionised. In 1983 Dr Child was awarded an M.Phil. in Medical Genetics at the University of London for elucidating the modes of inheritance of three types of congenital structural heart disease (hypoplastic left heart syndrome, endocardial fibroelastosis and Kartagener syndrome). Although familial recurrences were reported, molecular genetics was not available to isolate the causative genes at that time. However accurate sibling and offspring recurrence risks enable geneticists to give correct genetic counselling for these three conditions. In 1988 Dr Child was awarded an M.D. (University of Leicester) for her published works dealing with non-invasive ultrasound measurements of the aortic wall in Marfan syndrome and three overlapping connective tissue disorders. Between 1987 and the present, national databases of families with early coronary artery disease, Marfan syndrome, joint hypermobility syndrome, ectopia lentis, primary lymphoedema, primary glaucoma, mitral valve prolapse and adolescent idiopathic scoliosis have been established and maintained with funding from British Heart Foundation, Arthritis and Rheumatism Council, Medical Research Council, British Scoliosis Research Foundation, National Eye Institute (USA), Royal National Institute for the Blind ( UK), Marfan Trust and Marfan Association (UK)and private individuals. Collaborative studies of these families have lead to the discovery of the gene for Marfan syndrome and its spectrum of disorders including ectopia lentis, of the first gene for Adolescent Idiopathic Scoliosis, of four loci and two genes for glaucoma, a third locus for familial mitral valve prolapse and three loci (2 genes) for familial lymphoedema. The first UK laboratory dedicated to the spectrum of fibrillin-1 disorders was established as the Sonalee Laboratory, with funds raised through the Marfan Trust in 1998. This was the first laboratory in the UK to offer service screening for Marfan syndrome families, with a 75% yield in mutation analysis. A 5-year research plan includes development of in-vitro fertilisation for this often fatal disorder. Clinical publications based on the Marfan syndrome database are wide ranging, including manifestations of eye disease, heart , lung and musculoskeletal disorders. A recent publication demonstrated fibrillin-1 deficiency in skeletal muscle in a patient with generalised muscular weakness. Elucidation of ectopia lentis patients as having a different type of mutation and a much better long-term prognosis from the cardiac point of view was also published. At present, investigations into five instances of the Sprintzen- Goldberg syndrome are under way. Special investigation of the 20% of families who do not demonstrate Marfan syndrome mutation in exons 1-65, is planned. Future plans also include a drug trial in our patient population, of any medication proven to be of long term benefit in the Marfan syndrome mouse model investigated in the USA. Academic and Professional degrees University of Toronto MD Medicine 1983 University of London M.Phil Medical Genetics (congenital heart disease) Employment and Positions Present position: Director — Marfan syndrome and related disorders research group Reader/Hon.Consultant Cardiological Sciences Senior Lecturer/Hon.Consultant Cardiological Sciences SGHMS 1998-present Honorary Senior Lecturer Glaucoma Research Unit Moorfields Eye Hospital London Membership of Scientific Societies Clinical Genetics Society of Great Britain 1999 Fellowship of the International College of Angiology FICA 2000 Member Royal College of Physicians 1993-2000 British Scoliosis Research Foundation Scholarship Summary of Publications Peer reviewed papers:72
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