The Lowe Syndrome Charity Trust is a medical research and family support charity into Lowe Symdrome (OCRL)

1. The
Lowe Syndrome Trust
“Care today…. cure tomorrow”
Partner of the National Institute for
Health Research (NIHR).
Music

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 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
 Joseph Laycock
Patrons include:
 Richard Desmond
 Sir Richard Sykes
 Penny Lancaster Stewart
 Mr Tony Hadley
 Melanie C (Chisholme)
 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 /drug 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/ICH London - OCRL1 function of Lowe
• Yale University USA – Cell Disorders
• UCL/Royal Free – kidney abnormalities

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
www.lowetrust.com