Entries by Sean Kelly

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 […]

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

24th January 2024 in , , /by

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.

24th January 2024 in , , /by

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 […]

A new function for ATM and a new theory for the clinical abnormalities in A-T

31st December 2023 in , , /by

Research Project information Principal researcher: Professor Mike Kastan Institute: Duke University, North Carolina, USA Cost: £249,854 over 36 months Completion date: 31st December 2023 Project Overview Ataxia Telangiectasia (A-T), results from loss of function of the ATM (Ataxia Telangiectasia, Mutated) gene. Although much is known about the function of the protein encoded by this gene, mechanistic understanding of how […]

Understanding and correcting glucose metabolism defects in A-T

9th February 2023 in , /by

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 […]