Entries by Sean Kelly

The Stephen Green project for the study and treatment of DNA production defects in Ataxia Telangiectasia

Research Project information Principal researcher:  Dr Vincenzo Costanzo Institute: IFOM – The FIRC Institute of Molecular Oncology, Milan, Italy Cost: £99,936 over 36 months Start Date: December 2016 What are the researchers proposing to do? The research team will test the hypothesis that ATM (the protein which is missing or not functioning completely in A-T) controls the chemical reactions required […]

The Boys’ Story

We have 4 exceptionally wonderful children. Our twin boys were diagnosed with A-T over 5 years ago. To say it came as a shock is an understatement. Apart from their balance not being quite right, they hit every developmental milestone in their early childhood so we were not expecting a serious diagnosis at all. I […]

Kenny Logan receives cheque from Barings

Ex-Scottish International rugby player Kenny Logan recently attended a cheque presentation evening at Barings. He collected the cheque for £40,000 on behalf of Action for A-T and conducted a Q&A session about his appearance on Strictly Come Dancing and rugby related topics. The sizeable donation is the result of a year long charity partnership between Barings and Action […]

BCA Cycle Team receive recognition plaque from Action for A-T

BCA have been bringing together buyers and sellers for nearly 70 years. Starting in 1946 as Southern Counties Car Auctions, they were one of the first companies to let people across the UK buy and sell a wide range of cars at auction, from budget runarounds to exotic imports. BCA supported Action for A-T in 2015 […]

Headley Does Bond

The residents of Headley village in Hampshire celebrated everything Bond last night when they donned their best 007 themed outfits to attend the “Headley Does Bond” dinner dance. The evening was put together by a committed team of local volunteers to raise much needed funds for vital A-T related medical research. The evening was staged at Headley Village […]

Funding of a fluorescent microscope as a vital tool for the ongoing research and diagnosis of A-T and A-T-related disorders

Equipment information Principal researcher: Professor Grant Stewart Institute: University of Birmingham Cost: £37,810.25 Start Date: February 2016 What are the researchers proposing to use the microscope for and why? There are two ways Grant and his team propose to use the microscope: Firstly, the team will use the microscope for a long-standing research project ongoing […]

Therapeutic strategies for offsetting Neurological Sequelae in A-T

Research Project Information Principal researchers: Dr. Margot Mayer-Proschel Institute: University of Rochester, United States of America Grant award: Funded in partnership with the A-T Children’s Project Project completion date: July 2015 Project Overview Ataxi Telangiectasia (A-T) is caused by faults in a gene called ATM (Ataxia Telangiectasia Mutated), which results in the ATM protein not functioning correctly. […]

Neurons from blood-derived stem cells as a model of A-T neurodegeneration.

Research Project Information Principal Researchers: Professor Ron Hart Institute: University of Rutgers, United States of America Project Completion Date: April 2015  Project Overview Ataxia Telangiectasia (A-T) is caused by defects in the ATM (Ataxia Telangiectasia Mutated) gene and the associated ATM protein. Similar to other neurodegenerative conditions, such as Alzheimer’s and Parkinson’s disease, some of […]

Investigating the potential of targeting resident neural stem cells in Ataxia Telangiectasia

Research Project Information Principal researchers: Professor Paul Wong Institute: MD Anderson Cancer Centre, University of Texas, USA Project completion date: December 2013 Project Overview Ataxia-telangiectasia (A-T) is caused by faults in a gene called ATM (Ataxia-Telangiectasia Mutated). Similar to Alzheimer’s and Parkinson’s disease, some of the most destructive symptoms are due to the death of nerve cells (neurons) […]

Linking Neurodegeneration to Protein Turnover in Ataxia Telangiectasia

Research Project Information Principal researchers: Professor Shyamal Desai Institute: Louisiana State University Health Sciences Centre, United States of America Grant awarded: Funded in partnership with the A-T Children’s Project Project completion date: July 2013 Project Overview Nerve cells (neurons) within the brain of Ataxia Telangiectasia (A-T) patients are defective in repairing damaged DNA. Consequently, A-T […]

Investigating Connectivity and Neuroinflammation within Corticomotor Networks in Ataxia Telangiectasia: Improving our Understanding of the Clinical Phenotype

Research Project Information Principal Researchers: Professor Stephen Rose Institute: Royal Children’s Hospital, University of Queensland, Australia Project Completion Date: July 2013  Project Overview  Ataxia Telangiectasia (A-T) is caused by faults in a gene called ATM (Ataxia Telangiectasia Mutated). A range of symptoms are observed, including the loss of muscle coordination (ataxia) due to the damage […]