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The Lowe Syndrome Trust “Care today…. cure tomorrow”

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Presentation on theme: "The Lowe Syndrome Trust “Care today…. cure tomorrow”"— Presentation transcript:

1 The Lowe Syndrome Trust “Care today…. cure tomorrow”

2 Here are some UK Lowe Syndrome Children 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

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 William van’t Hoff, Consultant Nephrologist, Great Ormond Street (GOSH) Dr William van’t Hoff, Consultant Nephrologist, Great Ormond Street (GOSH) Prof. Robert Unwin, Prof of Nephrology & Physiology, University College London Prof. Robert Unwin, Prof of Nephrology & Physiology, University College London Prof. Shamshad Cockcroft, Lipid Signalling Group, Department of Physiology, University College London. Prof. Shamshad Cockcroft, Lipid Signalling Group, Department of Physiology, University College London. Dr Philip Beales, Hon Consultant in Clinical Genetics, Institute of Child Health (ICH) Dr Philip Beales, Hon Consultant in Clinical Genetics, Institute of Child Health (ICH) Prof. Bruce Caterson, Professor of Research in Orthopaedics and Biochemistry, Cardiff University. Prof. Bruce Caterson, Professor of Research in Orthopaedics and Biochemistry, Cardiff University. Dr Anthony Norden, Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge. Dr Anthony Norden, Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge. Prof. Peter Cullen, Professor in Inositol Signalling and Lister Institute Research Fellow, Department of Biochemistry, University of Bristol. Prof. Peter Cullen, Professor in Inositol Signalling and Lister Institute Research Fellow, Department of Biochemistry, University of Bristol. The Lowe Syndrome Trust Medical Advisors are: Mike Harrison, Honorary Consultant in Paediatric Dentistry, Guys Hospital Mike Harrison, Honorary Consultant in Paediatric Dentistry, Guys Hospital Dr David Taylor, Opthalmic Surgeon, GOSH. Dr David Taylor, Opthalmic Surgeon, GOSH.

6 The Trustees are: Lorraine Thomas Lorraine Thomas Penny Biziou Penny Biziou Carolyn Mitchell Carolyn Mitchell Catherine McNaught Catherine McNaught Jonathan Ross Jonathan Ross Patrons include : Richard Desmond Richard Desmond Tris Payne Tris Payne Sir Richard Sykes Sir Richard Sykes Ms Penny Lancaster Ms Penny Lancaster Susie Webb Susie Webb Baroness Greenfield Baroness Greenfield Mathieu Flamini Arsenal Player Mathieu Flamini Arsenal Player Andy Gomersall Rugby Player Andy Gomersall Rugby Player Tony Hadley Tony Hadley Tom Conti Tom Conti

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. Great Ormond Street London – Culture Cells and Antibodies shared by the other projects. Imperial College - Lowe Enzyme Test and Therapy. Imperial College - Lowe Enzyme Test and Therapy. University College - Cell Trafficking defects University College - Cell Trafficking defects Dundee University - Cell defects Brain/Kidney Dundee University - Cell defects Brain/Kidney Moorfields Eye Hospital - Cataracts Moorfields Eye Hospital - Cataracts Addenbrookes Cambridge - Kidney defects Addenbrookes Cambridge - Kidney defects University of San Francisco - Mouse Model University of San Francisco - Mouse Model Manchester University - Zebra Fish Model Manchester University - Zebra Fish Model Purdue University USA - OCRL1 function of Lowe Purdue University USA - OCRL1 function of Lowe Yale University USA – Cell Disorders 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 BGC 9/11 Charity Day 2010

18 Many thanks to all our supporters

19 For further information and contacts see www.lowetrust.com


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