Entries by Sean Kelly

Kicking Kinases into Action: A novel drug screening assay for A-T

9th December 2024 in , , /by

Research Project information Principal researcher:  Dr Paula Jackson Institute: School of Pharmacy, Nottingham University Cost: £19,238 over 8 months Start Date: 1st of November 2024 What are the researchers proposing to do? ATM, a serine threonine kinase protein, is a key protein that is dysregulated in Ataxia Telangiectasia (A-T). ATM has a multitude of roles such as […]

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

5th December 2024 in , /by

Research Project information Principal researchers: Munira Khan & Dr Lisa Bunn Institute: University of Plymouth Cost: £71,902.91 over 36 months Completion Date: August 2024 Project Overview This project aimed to develop evidence-based guidance for healthcare professionals managing Ataxia Telangiectasia (A-T), focusing on nursing, physiotherapy, and occupational therapy. Historically, these disciplines have been integral to A-T management but […]

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 […]