Entries by Sean Kelly

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 Start Date: 1st of November 2024 over 6 months 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 […]

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

4th June 2024 in , , /by

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 Completion date: March 2024 Project Overview 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 other organs. Professors Mayer-Proschel […]

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

25th February 2024 in , , /by

Research Project information Principal researcher: Dr Rob Dineen Institute: University of Nottingham Cost: £100,556.59 over 24 months Completion date: September 2023 Project Overview 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 good way to find hidden cancers in […]