Transcript Lowe Syndrome ppt Presentation

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, Cysts, Brain and Behaviour.
The research also has implications for treating
other diseases such as Dents.
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.
The Trust has established a Medical and Scientific
Advisory board
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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:
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Lorraine Thomas
Penny Biziou
Carolyn Mitchell
Catherine McNaught
Jonathan Ross
Patrons include:
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Richard Desmond
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Tris Payne
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Sir Richard Sykes
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Ms Penny Lancaster
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Susie Webb
Baroness Greenfield
Mathieu Flamini Arsenal Player
Andy Gomersall Rugby Player
Tony Hadley  Tom Conti
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
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
BGC 9/11 Charity Day 2010
Many thanks to all our
supporters
For further information
and contacts see
www.lowetrust.com