We believe in the power of research to change the future and are passionate about investing in innovative research to drive us towards better treatments and move us closer to a cure for AT. By bringing top scientists together and exploring the latest advances in technology, we are proud that our funding and support of world-leading medical science has already advanced our understanding of the condition.
Please click on the photograph on each post to view the full research story.
- Understanding and correcting glucose metabolism defects
- Data-driven drug discovery for AT
- Brain-penetrating ATM gene therapy
- Functional and metabolomic analysis of iPSC-derived Purkinje neurons
- Natural History of Ataxia Telangiectasia (N-HAT)
- CoIN Study, Covid-19 impact on wellbeing in families of children with rare neurogenetic disorders
- Designing ‘My A-Team Pack’ for children and young people with AT
- AT cerebellar neurodegeneration and inositol phosphate signalling
- The Global Search for a Cure
- Trial REadiness in Ataxia Telangiectasia (TREAT-AT)
- Study of natural killer cells in AT pathogenesis and their therapeutic implications
- Modulation of RELB/p52-dependent NF-KB activities to improve neurodegenerative symptoms of AT
Understanding and correcting glucose metabolism defects
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 Action for A-T (UK), AEFAT (Spain) and BrAshA-T (Australia)
Start Date: 1st of April 2023
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Data-driven drug discovery for AT
Principal researcher: Dr Sam Nayler
Institute: QIMR Berghofer Medical Research Institute, Queensland, Australia
Cost: £149,690.39 co-funding in partnership with Action for A-T (UK), AEFAT (Spain) and BrAshA-T (Australia)
Start Date: 1st of December 2022
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Brain-penetrating ATM gene therapy
Principal researcher: Dr James Dixon
Institute: University of Nottingham, UK
Cost: £147,304.37 over 24 months in partnership with Action for A-T (UK), AEFAT (Spain) and BrAshA-T (Australia)
Start Date: 5th of September 2022
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Functional and metabolomic analysis of iPSC-derived Purkinje neurons
SCIENTIFIC LEAD: Dr Marco Foiani & Dr Domenico Delia: FIRC Institute of Molecular Oncology, Milan, Italy
LENGTH: Due to conclude 2022
COSTS: £80,000
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Natural History of Ataxia Telangiectasia (N-HAT)
Principal researchers: Dr William Whitehouse & Dr Emily Petley
Institute: University of Nottingham
Cost: £177,865.96 over 24 months in partnership with the A-T Society and BrAshA-T
Project Completion Date: 30th of August 2022
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CoIN Study, Covid-19 impact on wellbeing in families of children with rare neurogenetic disorders
SCIENTIFIC LEAD: Dr. Charlotte Tye (King’s College London)
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Designing ‘My A-Team Pack’ for children and young people with AT
SCIENTIFIC LEAD: Munira Khan & Dr Lisa Bunn (University of Plymouth)
COSTS: £89,862.48 over 36 months by Action for A-T
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AT cerebellar neurodegeneration and inositol phosphate signalling
SCIENTIFIC LEAD: Professor Tanya Paull: University of Texas, Austin, USA
LENGTH: Concluded
COSTS: £90,000 co-funded by the AT Society, BrAshA-T (Australia), AEFAT (Spain), Action for A-T
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The Global Search for a Cure
As AT is such a rare disease, it is critical that our valuable resources committed to finding a cure for AT are fully maximised. This can only be achieved through a coordinated effort by all of the major stakeholders across the globe including patients and their families/supporters, researchers, clinicians and charitable organisations.
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Trial REadiness in Ataxia Telangiectasia (TREAT-AT)
Research Project information
Principal researchers: Dr Rita Horvath and Dr Anke Hensiek
Institute: University of Cambridge, UK
Cost: £250,000 over 36 months co-funding in partnership with Action for A-T (UK), AEFAT (Spain) and BrAshA-T (Australia)
Start Date: 1st of January 2023
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Study of natural killer cells in AT pathogenesis and their therapeutic implications
PROJECT: Study of natural killer cells in AT pathogenesis and their therapeutic implications
Principal researchers: Dr Margherita Doria (right) and Dr. Maria Giovanna Desimio
Institute: Tor Vergata University of Rome, Italy
Cost: £91,000 over 24 months in partnership with Action for A-T (UK), AEFAT (Spain) and BrAshA-T (Australia)
Start Date: 1st of November 2022
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Modulation of RELB/p52-dependent NF-KB activities to improve neurodegenerative symptoms of AT
PROJECT: Modulation of RELB/p52-dependent NF-KB activities to improve neurodegenerative symptoms of AT
SCIENTIFIC LEAD: Dr Svetlana Khorenenkova, Cambridge University, UK
LENGTH: The study will commence in 2021
COSTS: £90,000
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