The Lowe Syndrome Trust Care today. cure tomorrow. Partner of the National Institute for Health Research (NIHR).
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1 The Lowe Syndrome Trust Care today. cure tomorrow Partner of the National Institute for Health Research (NIHR).
2 They are born with multiple handicaps including Cataracts, Weak muscles, Kidney, Growth, Brain and Bone disorders. This is due to a DNA mutation that results in a low level of an essential enzyme Here are some UK Lowe Syndrome Children
3 The aim of the charity is to develop ways to treat Lowe syndrome. This covers Cataracts, Kidney disease, Muscle, Cartilage, Cysts, Brain and Behaviour. The research also has implications for treating other diseases such as Dents.
4 Lowe Syndrome can occur with no family history and affects children worldwide. The severity varies with some children near normal and some blind and disabled.
5 The Trust has established a Medical and Scientific Advisory board Dr Nimalan Maruthainar, Consultant Orthopaedic Surgeon Royal Free Hospital * Dr Richard Sandford, Consultant Clinical Geneticist, Cambridge Institute of Medical Research Dr Detlef Bockenhauer, Consultant Nephrologist, Great Ormond Street Hospital Professor Robert Unwin, Professor of Nephrology & Physiology, University College London Professor Shamshad Cockcroft, Department of Physiology, University College London Professor Philip Beales, Hon Consultant in Clinical Genetics, Institute of Child Health Dr Rudiger Woscholski, Senior Lecturer, Division of Cell & Molecular Biology Imperial College London Professor Helen Cross, Reader, Paediatric Neurologist, Epileptology, GOS London Professor Peng Khaw, Professor of Glaucoma and Ocular Healing and Consultant Ophthalmic Surgeon, Institute of Ophthalmology Moorfields Professor Robert Kleta, Potter Chair of Nephrology, Royal Free Hospital * Dr Joseph Laycock, Editorial Assistant, Great Ormond Street, Institute of Child Health The Lowe Syndrome Trust Medical Advisors are: Mike Harrison, Honorary Consultant in Paediatric Dentistry, Guys Hospital
6 The Trustees are: Lorraine Thomas Penny Biziou Carolyn Mitchell Catherine McNaught Jonathan Ross Patrons include: Richard Desmond Sir Richard Sykes Ms Penny Lancaster Mr Tony Hadley Seville Bulpitt Baroness Susan Green Mathieu Flamini Lisa Voice Melanie Blatt Melanie Sykes Christopher Biggins Tom Conti Mark Emms Michael Fennings
7 The research projects are coordinated by the charity and study different aspects of the disease: Great Ormond Street London Culture Cells and Antibodies shared by the other projects. Imperial College - Lowe Enzyme Test and Therapy. University College - Cell Trafficking defects Dundee University - Cell defects Brain/Kidney Moorfields Eye Hospital - Cataracts Addenbrookes Cambridge - Kidney defects University of San Francisco - Mouse Model Manchester University - Zebra Fish Model Purdue University USA - OCRL1 function of Lowe Yale University USA Cell Disorders
8 We are helping to fund kidney Research at Great Ormond Street Hospital / ICH
9 Zebra Fish Model Manchester University
10 Enzyme research at Imperial College London
11 Cataract research at Moorfields Eye Hospital
12 Kidney research at Addenbrook s Hospital Cambridge
13 The Charity holds international medical conferences and encourages coordinated research efforts
14 The Charity is run by unpaid volunteers, unpaid scientific and medical advisors and all funds are donated by the public and though fundraising events
15 2006 World Record Skateboard records for lowe syndrome In 2006 Dave Cornthwaite Skateboarded across UK from John o'groats to Land's End as a warm up, then across Australia.
16 London to Reims Cycle Tour 2006 Marselle - Monaco 2007 Italy Tuscany 2008
17 City Charity Days/2010 / 2011 Penny Lancaster, Rod Stewart, Tony Hadley, Jonathan Ross, Christopher Biggins, all raised money for Lowe Syndrome research
18 Many thanks to all our supporters
19 For further information and contacts see
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