The

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• The
• Lowe Syndrome Trust
• Care today. cure tomorrow

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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
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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.
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. Lowe Syndrome can occur with no family history
and affects children worldwide. The severity
varies with some children blind and unable to
walk.
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• The Trust has established a Medical and
  Scientific
• Advisory board
• Dr William vant 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,
  Addenbrookes 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.

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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

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• 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

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We are helping to fund kidney Research at Great
Ormond Street Hospital / ICH
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Zebra Fish Model Manchester University
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Enzyme research at Imperial College London
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Cataract research at Moorfields Eye Hospital
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Kidney research at Addenbrooks Hospital Cambridge
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The Charity holds international medical
conferences and encourages coordinated research
efforts
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The Charity is run by unpaid volunteers, unpaid
scientific and medical advisors and all funds are
donated by the public and though fundraising
events
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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.
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London to Reims Cycle Tour 2006Marselle - Monaco
2007Italy Tuscany 2008
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Many thanks to all our supporters
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For further information and contacts
seewww.lowetrust.org.uk