Title: Functional and metabolomic analysis of iPSC-derived Purkinje neurons from A-T patients
Length: 1 year from 1 April 2018
Summary: This project aims to take induced pluripotent stem cells, developed from the cells of people with A-T and turn them into Purkinje cells, in the laboratory. Once they have done this, they will carry out a series of analyses of the metabolic processes at work in the cells, to determine what factors and alterations make these cells hypersensitive to the absence of ATM.
Support: £80,000 The A-T Society is funding the whole of this project.
Nottingham University Hospitals NHS Trust
Title: Natural History of A-T
Length: 3 years from April 2018
Summary: Over the years, the A-T clinics at Nottingham and Papworth have acquired an unparalleled amount of clinical data on people with A-T. This project will use this data to produce a natural history of A-T, that is a formal and evidenced description of the entire course of the condition.
Support: Currently £12,125 for equipment and statistical support. The rest of the first year of the project is already funded. The A-T Society aims to fund the second and third year in partnership with other funders.
University of Nottingham
Title: Non-viral gene delivery of ATM
Length: 3 months (as part of a longer-term project)
Summary: Currently, viral vectors for gene therapy do not have sufficient capacity to carry the very large ATM gene. This team has developed a non-viral vector for cystic-fibrosis that they believe could effectively deliver the ATM gene to the brain. This study will test the ability of the vector to correct the molecular deficiency in cells from people with A-T.
Support: £10,600 The A-T Society is funding a 3-month proof of concept study
University of Newcastle
Title: A survey of the information needs and research priorities of people and families with Ataxia-Telangiectasia
Length: 3 months
Support: Practical support in drafting, circulating and collecting survey and encouraging participation
Summary: A survey of the information people and families with ataxia-telangiectasia feel they need on Cancer in A-T and which areas they see as priorities for research.