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Research we support

Marco Foiani – Domenico Delia

FIRC Institute for Molecular Oncology, Milan

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.


William Whitehouse

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.


James Dixon

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


Simon Bomken

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.