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

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) • Prof. Robert Unwin, Prof of Nephrology & 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) • Prof. Bruce Caterson, Professor of Research in Orthopaedics and Biochemistry, Cardiff University. • 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. The Lowe Syndrome Trust Medical Advisors are: • Mike Harrison, Honorary Consultant in Paediatric Dentistry, Guys Hospital • Dr David Taylor, Opthalmic Surgeon, GOSH.

6. The Trustees are: • Lorraine Thomas • Penny Biziou • Carolyn Mitchell • Catherine McNaught • Jonathan Ross Patrons include: • Richard Desmond • Tris Payne • Sir Richard Sykes • Ms Penny Lancaster • Susie Webb • Baroness Greenfield • Mathieu Flamini Arsenal Player • Andy Gomersall Rugby Player • Tony Hadley • 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. • 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 2006Marselle - Monaco – 2007Italy – Tuscany 2008

17. BGC 9/11 Charity Day 2010

18. Many thanks to all our supporters

19. For further information and contacts seewww.lowetrust.com