TheTheLowe Syndrome TrustLowe Syndrome Trust

““Care today…. cure tomorrow”Care today…. cure tomorrow”

Here are some UK Lowe Here are some UK Lowe Syndrome Children Syndrome Children

They are born with multiple handicaps including They are born with multiple handicaps including Cataracts, Weak muscles, Kidney, Growth, Brain and Cataracts, Weak muscles, Kidney, Growth, Brain and Bone disorders. This is due to a DNA mutation that Bone disorders. This is due to a DNA mutation that

results in a low level of an essential enzymeresults in a low level of an essential enzyme

The aim of the charity is to develop ways to treat The aim of the charity is to develop ways to treat Lowe syndrome.Lowe syndrome.

This covers cataracts, kidney disease, Muscle, This covers cataracts, kidney disease, Muscle, Cartilage, Brain and Behaviour. Cartilage, Brain and Behaviour.

The research also has implications for treating The research also has implications for treating other diseases such as cancer and diabetes.other diseases such as cancer and diabetes.

. Lowe Syndrome can occur with no . Lowe Syndrome can occur with no family history and affects children family history and affects children worldwide. The severity varies with some worldwide. The severity varies with some children blind and unable to walk. children blind and unable to walk.

The Trust has established a Medical and Scientific The Trust has established a Medical and Scientific Advisory board Advisory board

Dr William van’t Hoff, Consultant Nephrologist, Great Ormond Street (GOSH)Dr William van’t Hoff, Consultant Nephrologist, Great Ormond Street (GOSH) Prof. Robert Unwin, Prof of Nephrology & Physiology, University College London Prof. Robert Unwin, Prof of Nephrology & Physiology, University College London Prof. Shamshad Cockcroft, Lipid Signalling Group, Department of Physiology, Prof. Shamshad Cockcroft, Lipid Signalling Group, Department of Physiology,

University College London.University College London. Dr Philip Beales, Hon Consultant in Clinical Genetics, Institute of Child Health Dr Philip Beales, Hon Consultant in Clinical Genetics, Institute of Child Health

(ICH)(ICH) Prof. Bruce Caterson, Professor of Research in Orthopaedics and Biochemistry, Prof. Bruce Caterson, Professor of Research in Orthopaedics and Biochemistry,

Cardiff University.Cardiff University. Dr Anthony Norden, Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge.Dr Anthony Norden, Clinical Biochemistry, Addenbrooke’s Hospital, Cambridge. Prof. Peter Cullen, Professor in Inositol Signalling and Lister Institute Research Prof. Peter Cullen, Professor in Inositol Signalling and Lister Institute Research

Fellow, Department of Biochemistry, University of Bristol. Fellow, Department of Biochemistry, University of Bristol.

The Lowe Syndrome Trust Medical Advisors are:The Lowe Syndrome Trust Medical Advisors are: Mike Harrison, Honorary Consultant in Paediatric Dentistry, Guys HospitalMike Harrison, Honorary Consultant in Paediatric Dentistry, Guys Hospital Dr David Taylor, Opthalmic Surgeon, GOSH.Dr David Taylor, Opthalmic Surgeon, GOSH.

The Trustees are:The Trustees are: Lorraine Thomas Lorraine Thomas Penny BiziouPenny Biziou Carolyn MitchellCarolyn Mitchell Catherine McNaughtCatherine McNaught Jonathan RossJonathan Ross

Patrons includePatrons include: : Richard Desmond Richard Desmond Tris PayneTris Payne Sir Richard SykesSir Richard Sykes Ms Penny LancasterMs Penny Lancaster Susie Webb Susie Webb

Baroness GreenfieldBaroness Greenfield Mathieu Flamini Arsenal PlayerMathieu Flamini Arsenal Player Andy Gomersall Rugby PlayerAndy Gomersall Rugby Player Tony HadleyTony Hadley Tom ContiTom Conti

                         

     

The research projects are coordinated by the The research projects are coordinated by the charity and study different aspects of the disease:charity and study different aspects of the disease: • Great Ormond Street London – Culture Cells Great Ormond Street London – Culture Cells (from urine samples) shared by the other projects. (from urine samples) shared by the other projects. • Imperial College - Lowe Enzyme test/ therapy. Imperial College - Lowe Enzyme test/ therapy. • University College - Cell Trafficking defects University College - Cell Trafficking defects • Dundee University - Cell defects Brain/KidneyDundee University - Cell defects Brain/Kidney• Moorfields Eye Hospital - CataractsMoorfields Eye Hospital - Cataracts• Addenbrookes Cambridge - Kidney defectsAddenbrookes Cambridge - Kidney defects• University of San Francisco - Mouse ModelUniversity of San Francisco - Mouse Model• Manchester University - Fish 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 Cataract research at Moorfields Eye HospitalHospital

Kidney research at Addenbrook’s Kidney research at Addenbrook’s Hospital CambridgeHospital Cambridge

The Charity holds international The Charity holds international medical conferences and encourages medical conferences and encourages

coordinated research effortscoordinated research efforts

The Charity is run by unpaid volunteers, The Charity is run by unpaid volunteers, unpaid scientific and medical advisors and unpaid scientific and medical advisors and

all funds are donated by the public and all funds are donated by the public and though fundraising events though fundraising events

2006 World Record Skateboard 2006 World Record Skateboard records for lowe syndromerecords for lowe syndrome

In 2006 Dave Cornthwaite In 2006 Dave Cornthwaite Skateboarded across UK from Skateboarded across UK from

John o'Groats to Land's End as John o'Groats to Land's End as a a warm up, then across Australia.warm up, then across Australia.

London to Reims Cycle Tour 2006London to Reims Cycle Tour 2006Marselle - Monaco – 2007Marselle - Monaco – 2007

Italy – Tuscany 2008 Italy – Tuscany 2008

        

Many thanks to all our Many thanks to all our supporters supporters

For further information For further information and contacts seeand contacts see

www.lowetrust.org.ukwww.lowetrust.org.uk