Entries by Sean Kelly

Innovative methods for gene therapy in Ataxia-Telangiectasia

Research Project information Principal researcher: 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 gene into cells, scientists […]

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: £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)

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

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 […]

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 Start Date: September 2018 Action for A-T has provided £50,000 towards this project which is being funded and managed by the US based A-T Children’s Project. What are the researchers proposing to do? Non-viral gene therapy has the […]

New Collaborative partnership with BrAshA-T Ataxia-Telangiectasia

Action for A-T strongly believes that there are many opportunities to further the search for a treatment or cure for A-T through working with other like-minded organisations that may have overlapping aims or objectives to our own. We have significantly increased the amount of research taking place in our short history, but there is only […]

Running for Research

Alison Green tells us in her own words why she has decided to join the Action for A-T Virgin Money London Marathon team. Although I have completed marathons in the past, they have always been a challenge following a ski accident where I fractured  my pelvis. There has been the physical tiredness, the mental capacity […]

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: £240,000 over 28 months Start Date: 7th November 2017 (4 month extension to February 2020 granted in September 2019) What are the researchers proposing to do? Ataxia Telangiectasia (A-T) is caused by mutations in the ATM gene and more than 600 different mutations […]

Our Story

Our wonderful daughter was recently diagnosed with A-T at just 21 months old. We didn’t think that anything was wrong before she was about 14 months. Then we noticed that her back and head seemed more unstable than normal. Initially, she started some physical exercise as we hoped that this type of training would help with the unsteadiness. […]

Wasps Legends Foundation to support Action for A-T in 2018

Wasps Legends Charitable Foundation, the past players network of Wasps men and women, amateur and professional, announced at their annual Long Lunch that one of their charity partners for 2018 will be Action for A-T. Each year, Wasps Legends come together for a charity lunch, to raise money for the Wasps Legends Charitable Foundation. This […]

BCA raise record funds for A-T research

On 14 September, a team of amateur and fun riders from BCA and the wider motor industry gathered at BCA Blackbushe, before embarking on a 400km ride to Paris with the goal of raising funds and awareness for Action for A-T. Forty-five riders took part in the BCA Paris Challenge in total, along with support […]