National Information Centre

for Metabolic Diseases

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Welcome to Climb National Information Centre for Metabolic Diseases

Climb MCADD Conference 2013 in Northampton funded by the Charlie Mortimer Trust

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.

2000 – 2001 Funded research projects:
Dr Green	Birmingham Children’s Hospital	Management of patients with Adrenoleukodystrophy

Dr Wraith	Willink Biochemical Genetics Unit, Manchester	DNA Analysis

Dr Williams	Bath	Development of a Siblings Workbook

Dr Mehmet	Imperial College London	The Molecular Basis of Apoptosis Induced by MSD Metabolites


2001 – 2002 Funded research projects:
Dr Mehmet	Imperial College London	The Molecular Basis of Apoptosis Induced by MSD Metabolites



2002 – 2003 Funded research projects:
Dr Mehmet	Imperial College London	The Molecular Basis of Apoptosis Induced by MSD Metabolites

Dr Wallace	Glasgow	Testosterone Measurements to Assist Treatment Monitoring for CAH


2003 – 2004 Funded research projects:
Dr Mehmet	Imperial College, London	The Molecular Basis of Apoptosis Induced by MSD Metabolites

Dr Wallace	Glasgow	Testosterone Measurements to Assist Treatment Monitoring for CAH

Dr Rahman	Institute of Child Health London	Analysis of Candidate Genes for Mitochondrial Respiratory Chain Disorders.
Dr Gissen	Birmingham Children’s Hospital	Identification of Genes for Metabolic Disorders of the Liver

2004-2005 Funded research projects:
Dr Paul Gissen	Birmingham Children’s Hospital	Identification of Genes for Metabolic Disorders of the Liver
Professor Nils Goran Larsson	Karolinska Institute Sweden	Studies of mouse models of mitochondrial dysfunction to develop new diagnostic tools

2005-06 Funded research projects:
Dr Stephen Rose	St James’ University Hospital Leeds	Functional regulation of Niemann Pick Type C by ubiquitinylation
Professor Charles Coutelle	Imperial College London	A preventative approach to OTC deficiency by in utero gene therapy in a mouse model

2006-07 Funded research projects:
Dr Paul Gissen	Birmingham Children’s Hospital	Molecular Pathology of ARC Syndrome

2007-2008 Funded research projects:
Ms Dalvir Padda	Birmingham Childrens Hospital	Specialist Metabolic Nurse

2008-09 Funded research projects:
Professor Timothy Cox	University of Cambridge	The Dr Hans and Mrs Gertrude Hirsch Tay Sachs Research Project

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

Dr Jan-Willem Taanman

University Department of Clinical Neurosciences, Institute of Neurology, UCL

Deoxyribonucleoside Triphosphate Supplementation of Succinate Coenzyme A Ligase-Deficient Patient Cells

Ms Dalvir Padda

Birmingham Childrens Hospital

Specialist Metabolic Nurse

2009-10 Funded research projects:
Professor Timothy Cox	University of Cambridge	The Dr Hans and Mrs Gertrude Hirsch Tay Sachs Research Project
2010-11 Funded research projects:
Dr Angela Gritti	San Raffaele Telethon Institute for Gene Therapy Milan - Italy	Globoid Cell Leukodystrophy GLD
Dr Ramona Salvarinova	Division of Biochemical Diseases Vancouver , Canada	Glycogneosis type 1 (GSD1)
Professor Fran Platt,	Department of Pharmacology, Oxford UK	Lysosomal Storage Disorders GM1/GM2 3 year project
Prof. Valeria Dall'Asta	Department of Medicine Parma, Italy	Lysinuric Protein Intolerance (LPI) 2 year project
2011-12 Funded research projects:
Dr Claudio M Gomes	Instituto tecnologia Quimica e Biologica, Lisbon, Portugal	Fatty Acid Oxidation Disorders and MADD 2 Year Project
Professor Fran Platt,	Department of Pharmacology, Oxford UK	Lysosomal Storage Disorders GM1/GM2 Year 2
Prof. Valeria Dall'Asta	Department of Medicine Parma, Italy	Lysinuric Protein Intolerance (LPI) Year 2
2012-13 Funded research projects:
Dr Claudio M Gomes	Instituto tecnologia Quimica e Biologica, Portugal	Fatty Acid Oxidation Disorders and MADD 2 Year Project
Professor Fran Platt,	Department of Pharmacology, Oxford UK	Lysosomal Storage Disorders GM1/GM2 Year 3
Dr Gerard Conway	Department of Endocrinology UCLH NHS Foundation Trust London	A Study of the Impact of Catecholamine deficiency in Adults with Congenital Adrenal Hyperplasia 2 Year Project
Professor Fran Platt,	Department of Pharmacology, Oxford UK	Evaluation of iron supplementation therapy in a mouse model of Niemann-Pick type C1 disease. Joint 2 year project with the NPRF (Neimann Pick Research Founation)
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
2013-14 Funded research projects:
Professor Fran Platt,	Department of Pharmacology, Oxford UK	Evaluation of iron supplementation therapy in a mouse model of Niemann-Pick type C1 disease. Joint project with the NPRF (Niemann Pick Research Founation) year 2
Dr Gerard Conway	Department of Endocrinology UCLH NHS Foundation Trust London	A Study of the Impact of Catecholamine deficiency in Adults with Congenital Adrenal Hyperplasia Year 2

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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