Entries by @framework

A possible new role for ATM in maintaining healthy mitochondria

Research Project information Researcher: Professor Mike Kastan Institute: Duke University, North Carolina, USA Cost: $163,992 Project Completion Date: 28th February 2017 Project Overview Mitochondria are tiny compartments found within cells. They perform different and important functions to keep us healthy. They convert energy locked in food into energy that the cell can use. Mitochondria are often referred to as […]

Understanding dexamethasone action in Ataxia Telangiectasia

Research Project Information Principal researcher: Professor Luciana Chessa Institute: Department of Clinical and Molecular Medicine, University La Sapienza, Italy Grant award: £78,445.00 Project completion date: 31st December 2016 Project Overview Recent studies have shown that the steroid drug, Dexamethasone (Dexa), can improve some of the neurological symptoms experienced by patients with Ataxia Telangiectasia (A-T). But why Dexa works […]

Stem cell transplantation for A-T

Research Project Information Principal researcher: Professor Ralf Schubert Institute: Goethe University, Frankfurt Grant award: €119,450 Project completion date: 31st May 2017 Project Overview The symptoms of Ataxia Telangiectasia (A-T) can be devastating and include inflammation of the brain, a weakened immune system and an increased risk of cancer. There currently is no cure. Stem cell transplantation is already […]

Treating cancer in A-T without exacerbating central nervous damage

Research Project information Principal researcher: Professor Mark Noble Institute: University of Rochester, New York, USA Grant award: $158,600 Project Completion Date: December 2016 Project Overview Children with A-T have an increased incidence of developing cancers, primarily leukaemia and lymphoma. These children also bear the additional risk that the mutation causing A-T makes cells more susceptible to agents that cause […]

Studying how genetic factors might reduce the severity of A-T

Research Project information Principal researcher:  Professor Steve Jackson and Dr Rimma Belotserkovskaya Institute: The Gurdon Institute, University of Cambridge Grant Awarded: £38,876 Project Completion Date: 30th September 2016 Project Overview Steve and Rimma proposed to study cells derived from an Ataxia Telangiectasia (A-T) patient with unusually mild symptoms even though the patient had complete loss of ATM (the protein affected […]

Childhood Ataxia Telangiectasia Neuroimaging Assessment Project – The Catnap Study

Research Project Information Principal researchers: Dr Rob Dineen and Professor Dorothee Auer Institute: University of Nottingham, UK Project Completion Date: August 2016 Project Overview This research project jointly funded with the A-T Children’s Project aimed to understand what happens in the brains of children who have A-T. The Nottingham based team used the latest techniques in MRI scanning […]

Developing a new model for testing drugs to treat Ataxia Telangiectasia

Research Project information Principal researcher: Professor Richard Gatti Institute: University of California, Los Angeles, USA Grant award: $129,318 (managed by Sparks) Project Completion Date: December 2015 Project Overview Professor Gatti and his colleagues are aiming to develop a class of drug called “read-through compounds” to treat A-T. These drugs target one specific class of mutation in the ATM gene (the gene that carries […]

An ataxic mouse model of A-T

Research Project information Principal researcher: Professor Kamran Khodakhah and Ambika Tewari Institute: Albert Einstein College of Medicine, New York Cost: £100,000 over 18 months Start Date: March 2015 What are the researchers proposing to do? Kamran and Ambika aim to develop a mouse model of A-T which replicates the neurological symptoms of the condition such as ataxia (lack of […]

Gene therapy for the treatment of Ataxia Telangiectasia

Research Project Information Principal researchers: Professor Ignacio Molina Institute: University of Granada, Spain Grant award: £80,200 – Funded in partnership with Sparks & A-T Society Project completion date: May 2015 Project Overview Ataxia Telangiectasia (A-T) is caused by a fault in a gene called ATM (Ataxia Telangiectasia Mutated). Unfortunately, no effective treatment is currently available and present medication only alleviates symptoms […]

Brighton Marathon 2018

15th April 2018 The Brighton Marathon is one of the UK’s favourite 26.2-milers. With a stunning backdrop of the sea in one of the country’s most vibrant cities, the race gets bigger and better every year. Renowned for its buzzing atmosphere and roaring crowd support, the course winds through the city streets, finishing up on […]

Virgin Money London Marathon 2018

22nd April 2018 Join the Action for A-T London Marathon team and take on the 26.2 miles that make up this iconic marathon route. The Public Ballot for places has now closed. Please contact challenge@actionforAT.org to reserve one of our guaranteed spots.  Key Information • Date: Sunday 23rd April 2017 • Location: London • Distance: 26.2 […]

Isle of Wight Challenge

5th – 6th May 2018 Walk, Jog, or Run it! A stunning backdrop for an endurance challenge, the Island’s 106 km coastal path heads out from Chale, past the Needles, and on through areas of outstanding natural beauty with spectacular coastlines, dramatic white cliffs & sandy beaches. See every side of the island as you […]

London2Brighton 100km Challenge

26th – 27th May 2018 Part of the 100km Challenge series, this trek takes you from Richmond-upon-Thames through the North and South Downs to the finish on Brighton Racecourse. Choose your challenge, from taking on the 1/4, 1/2 or full 100km distance and whether to run, jog or walk it. Contact us at challenge@actionforAT.org for […]