Entries by Sean Kelly

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 […]

The use of patient stem cell-derived mini-brains to study A-T

Research Project information Principal researcher: Dr Samuel Nayler Institute: University of Oxford Cost: £81,718 over 12 months in partnership BrAshA-T Project Completion Date: 31st of December 2020  Project Overview What makes a person with A-T different from you or I? Since the ATM gene was first identified in 1995, numerous teams world-wide have committed themselves to investigating this question. […]

The David Peake Study to test the feasibility of whole-body MRI for cancer surveillance in children and young people with Ataxia Telangiectasia

Research Project information Principal researcher: Dr Rob Dineen Institute: University of Nottingham Cost: £100,556.59 over 24 months Start Date: 1st of October 2020 What are the researchers proposing to do?  Dr Rob Dineen and his team believe that the combination of an MRI scan of the whole body together with a blood test is a […]

Recurrent pulmonary infections and their impact on neurological decline in A-T

Research Project information Principal researcher: Professor Margot Mayer-Proschel and Professor Michael O’Reilly Institute: University of Rochester, New York Cost: £246,691 over 36 months Start Date: 1st of July 2020 What are the researchers proposing to do? A-T is a multi-organ disease, yet neurological pathologies (one of the main problems in A-T) are for the most part studied in isolation from […]

Business Charity Awards 2020

  We are delighted to have been shortlisted for the Third Sector Business Charity Awards 2020 under the category of best automotive and transport partnership. In 2019, the staff and customers of the automotive company BCA joined forces to raise funds for Action for A-T. BCA partnered with Action for A-T to deliver a mass […]

*The Stephen Green project for the study and treatment of DNA production defects in Ataxia Telangiectasia

Research Project information Principal researcher: Dr Vincenzo Costanzo Institute: IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy Cost: £99,936 over 36 months Project Completion Date: November 2019 *This project was made possible thanks to the funds raised by the 2016 Scumrun participants and donations made in memory of Stephen Green. Stephen was riding for Action for A-T when […]

The ATeam: Producing healthcare guidance for children with A-T including the exploration and design of a home-based exercise package

Research Project information Principal researchers: Munira Khan & Dr Lisa Bunn Institute: University of Plymouth Cost: £89,862.48 over 36 months Start Date: 1st of February 2020 (no cost extension granted until December 2023) What are the researchers proposing to do? This project aims to provide the foundations for therapy research into ataxia telangiectasia (A-T).  A large team of parents, […]

Naga wins big on Who Wants to be a Millionaire

Our amazing patron, Naga Munchetty took part in the celebrity edition of “Who Wants to be a Millionaire” on Saturday 4th January alongside Frank Skinner and Martine McCutcheon. After breezing through the earlier questions, Naga quickly used up two of her  three lifelines on a  question about the first name of a famous literary doctor before […]

Innovative methods for gene therapy in Ataxia-Telangiectasia

Research Project information Principal researcher: Professor Ignacio Molina & Dr García-Pérez Institute:  University of Granada Cost: £100,000 over 36 months in partnership with AEFAT (Spain) Start Date: 15th of November 2019 (Extension to 31st August 2023 granted in October 2020) What are the researchers proposing to do? Gene therapy is a technique for correcting genetic defect by inserting a […]

Identifying potential mechanisms to suppress A-T pathologies

Research Project information Principal researchers: Professor Steve Jackson and Dr Rimma Belotserkovskaya Institute: The Gurdon Institute, University of Cambridge Cost: £199,111 over 24 months Project Completion Date: April 2019 This research project was jointly managed and funded with the US-based A-T Children’s Project. Project Overview Ataxia-telangiectasia (A-T), is caused by mutations in the ATM gene.  This […]