Entries by Sean Kelly

Brain-penetrating ATM gene therapy

Research Project information Principal researcher: Dr James Dixon Institute: University of Nottingham, UK Cost: £147,304.37 over 24 months in partnership with the AEFAT, A-T Society and BrAshA-T Start Date: 5th of September 2022 What are the researchers proposing to do? Dr James Dixon and team propose to combine gene therapy and editing to engineer an effective therapy to treat […]

Non-viral gene therapy for Ataxia Telangiectasia

Research Project information Principal researcher: Dr James Dixon Institute: University of Nottingham Cost: ~£105,000 over 24 months in partnership with A-TCP Project Completion Date: June 2022 Project Overview Gene therapy is a method to replace faulty genes with new copies. This is not readily applicable to the treatment of A-T due to the disease gene (ATM) being too […]

Using new immunotherapy methods to treat lymphoma and leukaemia in A-T

Research Project information Principal researcher: Dr Elad Jacoby Institute: Sheba Medical Centre, Israel Cost: £143,400 over 18 months Project Completion Date: 1st August 2022 Project Overview Immunotherapy is a type of treatment for cancer which prompts the body’s own immune system to identify and destroy cancerous cells. The main players are called T-cells, which are a type of […]

Development of CRISPR/Cas Genome Editing as a Treatment for Ataxia Telangiectasia

Research Project information Principal researcher: Professor Rafael Yáñez-Muñoz Institute:  Royal Holloway, University of London Cost: £200,000 over 36 months Project Completion Date: 30th June 2021 Project Overview The aim of this project was to begin early research to explore the use of genome editing technology, known as CRISPR, to look at ways to permanently repair the ATM […]

Does irregular repair of DNA damage in Neurons and Lymphocytes cause cellular degeneration in A-T patients?

Research Project information Principal researcher: Dr Jean-Pierre De Villartay Institute: The IMAGINE Institute for Genetic Diseases, Paris Cost: £57,629 over 12 months Project Completion Date: 30th June 2021 Project Overview The ATM protein is one of the critical components necessary for the repair of DNA damage in human cells. In patients with A-T, who have mutations in […]

A-T cerebellar neurodegeneration and inositol phosphate signalling

Research Project information Principal researcher: Professor Tanya Paull Institute: The University of Texas at Austin, USA Cost: £90,074 over 12 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of June 2021 What are the researchers proposing to do? This project builds on work that has already been carried out by […]

Assessment of the frequencies and types of cancers in occurring in A-T patients

Research Project information Principal researcher: Professor Malcolm Taylor Institute:  University of Birmingham Cost: £53,618.63 over 24 months Start Date: 1st of March 2021 What are the researchers proposing to do? Building on their initial pilot study in 2011, Professor Taylor and his team at the Institute of Cancer and Genomic Sciences will perform a detailed survey […]

A new function for ATM and a new theory for the clinical abnormalities in A-T

Research Project information Principal researcher: Professor Michael Kastan Institute:  Duke University, USA Cost: £249,854 over 36 months Start Date: 1st of January 2021 What are the researchers proposing to do? A-T is caused by mutations in the ATM gene and results in progressive neurodegeneration, greater susceptibility to cancer, immune deficiencies, and other clinical manifestations. While much is known […]