Entries by Sean Kelly

An update from our Chief Executive

23rd March 2020 in , /by

The ever-changing situation in regards to COVID-19 is affecting each and every one of us and it’s clear we all have a very challenging time ahead. At Action for A-T, our main priority is to ensure the safety of the children and families living with Ataxia Telangiectasia, as well as our staff, volunteers and supporters. […]

Business Charity Awards 2020

19th March 2020 in /by

  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

6th March 2020 in , , /by

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 […]

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

24th February 2020 in , , /by

Research Project information Principal researcher: Dr Elad Jacoby Institute: Sheba Medical Centre, Israel Cost: £143,400 over 18 months Start Date: 1st of March 2020 What are the researchers proposing to do? 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 […]

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

28th January 2020 in , /by

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 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, academics and clinicians who are interested in […]

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

9th January 2020 in , /by

Research Project information Principal researcher: Dr Jean-Pierre De Villartay Institute: The IMAGINE Institute for Genetic Diseases, Paris Cost: £65,000 over 12 months Start Date: 1st of February 2020 What are the researchers proposing to do? 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 […]

Naga wins big on Who Wants to be a Millionaire

5th January 2020 in /by

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

8th November 2019 in , , /by

Research Project information Principal researcher: Professor Ignacio Molina & Dr García-Pérez Institute:  University of Granada Cost: £100,000 over 36 months Start Date: 15th of November 2019 What are the researchers proposing to do? Gene therapy is a technique for correcting genetic defect by inserting a healthy copy of a gene into cells (replacing a faulty gene).  To deliver a […]

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

19th July 2019 in , , /by

Research Project information Principal researcher: Dr Samuel Nayler Institute: University of Oxford Cost: £98,200 over 12 months in partnership BrAshA-T Start Date: 1st of September 2019 What are the researchers proposing to do? Dr Nayler and team are proposing to make cerebellar organoids or ‘mini-brains’ from induced pluripotent stem cells (iPSCs). iPSCs have been made from the skin of […]

Natural History of Ataxia-Telangiectasia (N-HAT)

6th June 2019 in , /by

Research Project information Principal researchers: Dr William Whitehouse & Dr Emily Petley Institute: University of Nottingham Cost: £177,865.96 over 24 months in partnership with the A-T Society and BrAshA-T Start Date: 7th of August 2019 What are the researchers proposing to do? Dr William Whitehouse, along with Dr Emily Petley and professionals from the two UK national A-T clinics, […]

Identifying potential mechanisms to suppress A-T pathologies

30th April 2019 in , , /by

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 […]