Entries by Sean Kelly

Further 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: £40,000 over 36 months Start Date: 1st November 2021 (no cost extension granted until March 2025) What are the researchers proposing to do? Following the completion of their original study, the Royal Holloway based team led by Professor Rafael Yáñez-Muñoz identified […]

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. […]

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 – No cost extension granted until 03/03/2024 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 […]

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 August 2024) 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 December 2023 granted in August 2022) What are the researchers proposing to do? Gene therapy is a technique for correcting genetic defect by inserting […]

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 […]

26 Steps for A-T

The Covid-19 pandemic has had a devastating effect on charities around the globe, with the cancellation of thousands of events and the loss of billions in fundraising income. In the UK, the organisers of the biggest mass-participation sports events such as the London Marathon have come together to create a new campaign to raise vital […]