Entries by Sean Kelly

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

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 […]

Preclinical Assessment of Intrathecal rAAV9-Mediated miATM Therapy for Ataxia Telangiectasia in Mouse Models.

Principal researcher:  Professor Hilde L. Nilsen Institute:  Oslo University Hospital, Norway Cost:  €150.000 over 24 months in partnership with AEFAT (Spain) and BrAshA-T (Australia) Start Date: Jan 2024 What are the researchers proposing to do and why? This preclinical study utilizes an injection of Recombinant Adeno Associated Virus 9 (rAAV9) to deliver a therapeutic mini version […]

Modelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering.

Principal researcher:  Dr Núria Montserrat Institute:  Institute for Bioengineering of Catalonia, Spain Cost: €150.000 over 24 months in partnership with AEFAT (Spain) and BrAshA-T (Australia) Start Date: Jan 2024 What are the researchers proposing to do and why? A-T is caused by mutations in the ATM gene. The most debilitating symptom of the condition is the […]

STIM A-T Pilot Study

Research Project information Principal researcher: Dr Caroline Blanchard Institute: Medicine, Clinical Neuroscience, Nottingham University Cost: £20,270 over 6 months Start Date: 1st of September 2023 What are the researchers proposing to do? Dr Blanchard and her team will conduct a pilot study called STIM A-T to explore a new approach for reducing involuntary movements in […]

Understanding and correcting glucose metabolism defects in A-T

Research Project information Principal researcher: Associate Professor Vincenzo Costanzo Institute:   IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy Cost: £125.820,50 over 36 months in partnership with the A-T Society (UK), AEFAT (Spain) and BrAshA-T (Australia) Start Date: 1st of April 2023 What are the researchers proposing to do? Costanzo and team will test the hypothesis that ATM […]