Entries by Sean Kelly

Exploring the Use of Assistive Robots, Smart Sensing and Digital Twin Models for Monitoring and Support of A-T in Non-Clinical Environments

20th November 2024 in , , /by

Research Project information Principal researcher:  Professor Praminda Caleb-Solly Institute: University of Nottingham Cost: £19,997 over 6 months Start Date: 1st of October 2024 What are the researchers proposing to do? This project will focus on exploring engaging ways to support children between the ages of 5 and 10 with A-T, and their parents, to better understand […]

Investigating the role of mutant Triple T chaperone in ATM assembly in Ataxia Telangiectasia

12th November 2024 in , , /by

Research Project information Principal researcher: Dr Mohinder Pal Institute: University of Kent, UK Cost: £249,806 over 36 months partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: TBC – currently recruiting What are the researchers proposing to do? A-T is caused by the loss of a protein called the ATM protein that participates in […]

Improving diagnosis and treatment of cancer in Ataxia-Telangiectasia patients through whole genome sequencing

14th October 2024 in , /by

Research Project information Principal researcher:  Dr Ramsay Bowden Institute: University of Cambridge Cost: £19,960 over 6 months Start Date: 1st of November 2024 What are the researchers proposing to do? This project aims to answer key questions in the diagnosis and treatment of cancer in people with A-T. All cancers have genetic changes, which make them […]

Development of a Gene Therapy approach to treat A-T

17th September 2024 in , /by

Research Project information Principal researcher:  Professor Samuel Young Institute:  University of North Carolina at Chapel Hill, USA Cost: £249,128 in partnership with AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of September 2024 over 36 months What are the researchers proposing to do? Although A-T is a multisystem disease, one of the most devastating symptoms is the […]

Biomarkers for Babies and Young Children with Ataxia Telangiectasia (BOBCAT)

16th September 2024 in , /by

Research Project information Principal researcher: Professor Rob Dineen Institute: University of Nottingham, UK Cost: £246,867.32 over 60 months in partnership with The A-T Society (UK) AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of September 2024 What are the researchers proposing to do? In 2021 the UK Neonatal Bloodspot Screening programme (the ‘heel-prick test’ that new-born babies have) […]

Identifying existing drugs to repurpose for treating Ataxia-Telangiectasia

16th September 2024 in , /by

Research Project information Principal researcher: Dr Richard Tuxworth Institute: University of Birmingham, UK Cost: £249,332.20 over 32 months in partnership with The A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of November 2024 What are the researchers proposing to do? Children with A-T have poorly coordinated movement because nerve cells in one part of the […]

Exploring Omaveloxolone efficacy in Ataxia-telangiectasia

16th September 2024 in , /by

Research Project information Principal researcher: Professor Paola Giunti (pictured) and Dr Rosella Abeti Institute: University College London (UCL), UK Cost: £24,914.62 over 4 months Start Date: 23rd of September 2024 What are the researchers proposing to do? One of the processes happening in people who have A-T is increased oxidative stress.  Oxidative stress is an imbalance of free […]

STIM A-T Pilot Study

16th July 2024 in , , /by

Research Project information Principal researcher:  Dr Caroline Blanchard Institute:  University of Nottingham Cost:  £20,270 Completion date:  February 2024  This project was part of our sandpit funding. Sandpit funding is a small pot of money that we invest in both an unmet research challenge in A-T and in researchers that are new to A-T.  We do this […]

Development of suppressor tRNA-based therapeutics

14th June 2024 in , /by

Research Project information Principal researcher: Professor Zoya Ignatova (University of Hamburg) and Professor Grant Stewart (University of Birmingham) Institute:   University of Hamburg and University of Birmingham Cost: £249,615 over 24 months in partnership with NATA (Nucleic Acid Therapy Accelerator), Oxford Start Date: 1st of June 2024 What are the researchers proposing to do? The underlying cause of Ataxia-Telangiectasia (A-T) […]

Innovative methods for gene therapy in Ataxia-Telangiectasia

4th June 2024 in , , /by

Research Project information Principal researcher:  Professor Ignacio Molina & Dr García-Pérez Institute:  University of Granada, Spain Cost:  £100,000 (funded in partnership with AEFAT, Spain) Completion date:   March 2024 Project Overview 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 […]