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Research Funded by Climb
When Climb was founded way
back in 1981 (as the Research Trust for Metabolic Diseases in Children), research was a
key objective for the charity and it remains so today. Since then we have
funded research into over sixty different metabolic diseases through over
130 different research projects and to a value of more than £1.05m. This
is an achievement of which Climb is rightly very proud.
The first project grant from
Climb was made in 1982 with a value of £1,000 for an enzyme transfer
project. More recent projects have included research into OTC (£12,000),
Mitochondrial disease (£10,261), Metabolic Liver Disease (£20,000) and
Niemann Pick Type C disease (£8,000).
The outcomes of Climb
funded research projects have been numerous and far reaching and include the
development of a new treatment for Glycolipid Storage Diseases, new patient
monitoring systems for CAH and Tyrosinaemia sufferers, the development of
improved treatment regimes for Cystinosis and PKU and a closer understanding
of the biochemistry of Lactic Acidosis, Malonyl-CoA Decarboxylase Deficiency
and Urea Cycle Disorders. Climb has funded projects ranging from those that
have developed the basic understanding of cell biochemistry to those that
have developed and evaluated new and better clinical treatments.
All potential projects are
assessed by a peer review process before being selected on merit by Climb’s
research sub-committee. Projects approved for Grant by the Research Committee are
referred to a full Board meeting at which Directors agree the funding of
projects based upon the recommendations of the Research Sub-committee and
available funding.
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2000 – 2001 Funded research projects: |
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Dr Green |
Birmingham Children’s
Hospital |
Management of patients with
Adrenoleukodystrophy |
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Dr Wraith |
Willink Biochemical
Genetics Unit, Manchester |
DNA Analysis |
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Dr Williams |
Bath |
Development of a Siblings Workbook |
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Dr Mehmet |
Imperial College
London |
The Molecular Basis of Apoptosis Induced
by MSD Metabolites |
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2001 – 2002 Funded research projects: |
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Dr Mehmet |
Imperial College
London |
The Molecular Basis of Apoptosis Induced
by MSD Metabolites |
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2002
– 2003 Funded research projects: |
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Dr Mehmet |
Imperial College
London |
The Molecular Basis of Apoptosis Induced
by MSD Metabolites |
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Dr Wallace |
Glasgow |
Testosterone Measurements to Assist
Treatment Monitoring for CAH |
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2003
– 2004 Funded research projects: |
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Dr Mehmet |
Imperial College, London |
The Molecular Basis of Apoptosis Induced
by MSD Metabolites |
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Dr Wallace |
Glasgow |
Testosterone Measurements to Assist
Treatment Monitoring for CAH |
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Dr Rahman |
Institute of Child Health
London |
Analysis of Candidate Genes for
Mitochondrial Respiratory Chain Disorders. |
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Dr Gissen |
Birmingham Children’s
Hospital |
Identification of Genes for Metabolic
Disorders of the Liver |
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2004-2005 Funded research projects: |
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Dr Paul Gissen |
Birmingham Children’s
Hospital |
Identification of Genes for Metabolic
Disorders of the Liver |
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Professor Nils
Goran Larsson |
Karolinska Institute
Sweden |
Studies of mouse
models of mitochondrial dysfunction to develop new diagnostic tools |
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2005-06 Funded research
projects: |
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Dr Stephen Rose
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St James’ University Hospital
Leeds |
Functional regulation of Niemann Pick
Type C by ubiquitinylation |
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Professor Charles Coutelle
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Imperial College
London |
A preventative approach to OTC
deficiency by in utero gene therapy in a mouse model |
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2006-07 Funded research
projects: |
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Dr Paul Gissen
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Birmingham Children’s Hospital |
Molecular Pathology of ARC Syndrome
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2007-2008 Funded research
projects: |
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Ms Dalvir Padda |
Birmingham
Childrens Hospital |
Specialist
Metabolic Nurse |
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2008-09
Funded research projects: |
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Professor Timothy
Cox |
University of
Cambridge |
The Dr Hans and Mrs
Gertrude Hirsch Tay Sachs Research Project |
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Dr Heidi Peters |
Murdoch Childrens Research Institute
Royal Children's Hospital
Melbourne, Australia |
Development of
Pharmacological Therapies for treatment of the inborn error of
organic acid metabolism Methylmalonic Aciduria |
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Dr Jan-Willem
Taanman |
University
Department of Clinical Neurosciences, Institute of Neurology, UCL |
Deoxyribonucleoside
Triphosphate Supplementation of Succinate Coenzyme A Ligase-Deficient
Patient Cells |
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Ms Dalvir Padda |
Birmingham
Childrens Hospital |
Specialist
Metabolic Nurse |
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2009-10 Funded research
projects: |
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Professor Timothy
Cox |
University of
Cambridge |
The Dr Hans and Mrs
Gertrude Hirsch Tay Sachs Research Project |
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2010-11 Funded research
projects: |
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Dr Angela Gritti |
San Raffaele Telethon
Institute for Gene Therapy
Milan -
Italy |
Globoid Cell Leukodystrophy GLD |
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Dr Ramona
Salvarinova |
Division
of Biochemical Diseases
Vancouver
, Canada |
Glycogneosis type 1 (GSD1) |
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Professor Fran Platt, |
Department of Pharmacology,
Oxford UK |
Lysosomal Storage Disorders GM1/GM2
3 year project |
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Prof. Valeria Dall'Asta |
Department of Medicine
Parma, Italy |
Lysinuric Protein Intolerance (LPI)
2 year project |
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2011-12 Funded research
projects: |
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Dr
Claudio M Gomes |
Instituto tecnologia
Quimica e Biologica,
Lisbon, Portugal |
Fatty Acid Oxidation Disorders and MADD
2 Year Project |
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Professor Fran Platt, |
Department of Pharmacology,
Oxford UK |
Lysosomal Storage Disorders GM1/GM2
Year 2 |
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Prof. Valeria Dall'Asta |
Department of Medicine
Parma, Italy |
Lysinuric Protein Intolerance (LPI)
Year 2 |
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2012-13 Funded research
projects: |
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Dr
Claudio M Gomes |
Instituto tecnologia
Quimica e Biologica, Portugal |
Fatty Acid Oxidation Disorders and MADD
2 Year Project |
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Professor Fran Platt, |
Department of Pharmacology,
Oxford UK |
Lysosomal Storage Disorders GM1/GM2
Year 3 |
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Prof. Valeria Dall'Asta |
Department of Medicine
Parma, Italy |
Role of
Arginine and its metabolites in the functions of macrophages
isolated from patients affected by
LPI
2 Year
Project
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In total,
these projects represent expenditure of over £450,000 on research since
2000. All this money has been raised through voluntary donations.
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