Entries by Sean Kelly

Understanding and correcting glucose metabolism defects in A-T

9th February 2023 in , /by

Research Project information Principal researcher: Associate Professor Vincenzo Costanzo Institute:   IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy Cost: £125.820,50 over 36 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of April 2023 What are the researchers proposing to do? Costanzo and team will test the hypothesis that ATM […]

Digital drug prediction informed by genetic analysis of stem cell-derived mini-brains from A-T patients

23rd November 2022 in , , /by

Research Project information Principal researcher: Dr Sam Nayler Institute:  QIMR Berghofer Medical Research Institute, Queensland, Australia Cost: £151,690.39 over 36 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of December 2022 What are the researchers proposing to do? In a previous study, Dr Sam Nayler and his team performed genetic […]

Trial REadiness in Ataxia Telangiectasia (TREAT-AT)

21st November 2022 in , , /by

Research Project information Principal researchers: Dr Rita Horvath and Dr Anke Hensiek Institute:  University of Cambridge, UK Cost: £250,000 over 36 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 25th of October 2023 What are the researchers proposing to do? Ataxia Telangiectasia (A-T) is a devastating and untreatable inherited disease with […]

Study of natural killer cells in A-T pathogenesis and their therapeutic implications

13th October 2022 in , , /by

Research Project information Principal researchers: Dr Margherita Doria (right) and Dr. Maria Giovanna Desimio Institute:  Bambino Gesù Children’s Hospital, Italy Cost: £91,000 over 24 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of November 2022 (No-cost extension until May 2025 granted in November 2023) What are the researchers proposing […]

Brain-penetrating ATM gene therapy

26th August 2022 in , /by

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 (no cost extension granted until 31st March 2025) What are the researchers proposing to do? Dr James Dixon and team propose to combine gene therapy […]

Non-viral gene therapy for Ataxia Telangiectasia

8th June 2022 in , /by

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

1st October 2021 in , , /by

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

30th June 2021 in , /by

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?

30th June 2021 in , /by

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 […]