2001 – 2005

2005

Prof Timothy Cox & Dr Patrick Deegan £71,521: Addenbrookes Hospital, University of Cambridge, England
Year one of a three-year grant to establish what lies at the core of the difference between two x-linked lysosomal storage disorders, MPS II, Hunter disease, and Fabry disease, by determining why females harbouring one copy of the defective gene for MPS II almost never develop the condition, whereas females carrying a single Fabry disease gene nearly always suffer from the disorder.

Prof Grzegorz Wegrzyn £60,000: University of Gdansk, Poland
Year one of a three-year project to develop Gene Expression-Targeted Isoflavone Therapy (GET IT) for Mucopolysaccharidosis Type III, Sanfilippo disease. The hypothesis was based on reducing the substrate, heparan sulphate, that cannot be degraded in lysosomes of affected patients due to a defect in one of the enzymes.

Cheryl Pitt & Christine Lavery £40,000: The Society for Mucopolysaccharide Diseases, UK
Final year of a three-year investigation into the psycho, social outcomes of bone marrow transplantation in MPSI, Hurler disease.

2004

Dr David Begley £45,959: King’s College Hospital, London, England
A one-year grant to research the involvement of the Blood-Brain Barrier in MPS IIIA and B, Sanfilippo disease, by comparing and quantifying the Blood-Brain Barriers (BBBs) permeability to solutes of defined molecular weight and physico-chemical characteristics in two mouse models of MPS IIIA and MPS IIIB and in wild type mice.

Cheryl Pitt & Christine Lavery £40,000: The Society for Mucopolysaccharide Diseases
Year two of a three-year investigation into the psychosocial outcomes of bone marrow transplantation in MPSI, Hurler disease.

Dr Bryan Winchester & Dr Clare Beesley £75,000: Institute of Child Health, London, England
Final year of a two-year project to identify putative biomarkers in MPS disorders and investigate at a molecular level the secondary effects of GAG storage, recognising that biomarkers could be a useful tool to monitor the effectiveness of treatments.

2003

Cheryl Pitt & Christine Lavery £40,000: The Society for Mucopolysaccharide Diseases
Year one of a three-year investigation into the psychosocial outcomes of bone marrow transplantation in MPS I, Hurler disease.

Bone marrow transplant (BMT) is considered the treatment of choice for the more severe form of MPS I, Hurler disease. However, the treatment is not a cure, is high risk, and has its limitations. The main limitations of BMT are that it cannot reverse neurological damage already caused by the disease prior to treatment, and it cannot prevent joint and bone problems that are characteristic of MPS I, from developing. Children with MPS I, Hurler, who have had a BMT therefore go on to experience various degrees of learning difficulties and physical disabilities. Over time their mobility is likely to decrease and they are likely to experience a forced dependence on their families. However, the psychosocial and development of these children had been neglected as a topic of research. The MPS Society therefore undertook an ethically approved research project to explore the psychological and social outcomes of BMT for this group of patients.

Dr Bryan Winchester & Dr Clare Beesley £72,824: Institute of Child Health, London, England
Year one of a two-year project to identify putative biomarkers in MPS disorders and investigate at a molecular level the secondary effects of GAG storage, recognising that biomarkers could be a useful tool to monitor the effectiveness of treatments.

Dr Rob Wynn, Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Final year of a three-year project to study the sue of Mesenchymal stem cells (MSCs) to target cells to correct the enzyme defect in MPS II, Hunter, and MPSIII, Sanfilippo, patients. The study included the testing of the hypothesis that MSCs from MPS II patients can be transduced with the retroviral vector containing the IDSG.

2002

Dr Rob Wynn £35,786; Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Year two of a three-year project to study the sue of Mesenchymal stem cells (MSCs) to target cells to correct the enzyme defect in MPS II, Hunter, and MPS III, Sanfilippo, patients. The study included the testing of the hypothesis that MSCs from MPSII patients can be transduced with the retroviral vector containing the IDSG.

Dr James Edmond Wraith £190,787: Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Dr Rob Wynn, Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England, Dr Bryan Winchester Institute of Child Health, London, England
Final year of a three-year two-centre programme grant:

  • To establish the molecular basis of novel mutations found in patients with MPSI, Hurler disease, and MPSIII, Sanfilippo disease
  • To develop gene therapy for MPS diseases using herpes virus vectors
  • To develop gene therapy using bone marrow cells and to investigate how the patient tolerates these new cells
  • To produce antibodies for use in gene therapy

Dr Rob Wynn £35,786: Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Year two of a three-year project to study the sue of Mesenchymal stem cells (MSCs) to target cells to correct the enzyme defect in MPS II, Hunter, and MPS III, Sanfilippo, patients. The study included the testing of the hypothesis that MSCs from MPSII patients can be transduced with the retroviral vector containing the IDSG.

2001

Dr Rob Wynn £24,869: Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Year one of a three-year project to study the sue of Mesenchymal stem cells (MSCs) to target cells to correct the enzyme defect in MPS II, Hunter, and MPS III, Sanfilippo, patients. The study included the testing of the hypothesis that MSCs from MPS II patients can be transduced with the retroviral vector containing the IDSG.

Dr James Edmond Wraith £203,079: Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England
Dr Rob Wynn Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, England, Dr Bryan Winchester, Institute of Child Health, London, England
Year two of a three-year two-centre programme grant:

  • To establish the molecular basis of novel mutations found in patients with MPSI, Hurler disease, and MPSIII, Sanfilippo disease
  • To develop gene therapy for MPS diseases using herpes virus vectors
  • To develop gene therapy using bone marrow cells and to investigate how the patient tolerates these new cells
  • To produce antibodies for use in gene therapy