The Lowe Syndrome Trust “ Care today…. cure tomorrow”
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
The aim of the charity is to develop ways to treat Lowe syndrome. This covers cataracts, kidney disease, Muscle, Cartilage, Brain and Behaviour. The research also has implications for treating other diseases such as cancer and diabetes.
. Lowe Syndrome can occur with no family history and affects children worldwide. The severity varies with some children blind and unable to walk.
The Trust has established a Medical and Scientific
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.
The Trustees are:
Patrons include :
Sir Richard Sykes
Ms Penny Lancaster
Mathieu Flamini Arsenal Player
Andy Gomersall Rugby Player
The research projects are coordinated by the charity and study different aspects of the disease:
Great Ormond Street London – Culture Cells (from urine samples) shared by the other projects.
Imperial College - Lowe Enzyme test/ 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 - Fish Model
We are helping to fund kidney Research at Great Ormond Street Hospital / ICH
Zebra Fish Model – Manchester University
Enzyme research at Imperial College London
Cataract research at Moorfields Eye Hospital
Kidney research at Addenbrook’s Hospital Cambridge
The Charity holds international medical conferences and encourages coordinated research efforts
The Charity is run by unpaid volunteers, unpaid scientific and medical advisors and all funds are donated by the public and though fundraising events
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.
London to Reims Cycle Tour 2006 Marselle - Monaco – 2007 Italy – Tuscany 2008
Many thanks to all our supporters
For further information and contacts see www.lowetrust.org.uk