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 Project Extension: November 2017 Extension Grant Award: €6934 Project Extension Overview This additional funding gives Professor Schubert and his team the possibility to perform the analysis of oxidative stress and damage in the lung of the mice transplanted under different condition regimen. Oxidative stress and damage […]

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 Institute: Albert Einstein College of Medicine, New York Project Completion Date: August 2016 Project Overview The aim of this project was to develop a mouse model of A-T which replicates the neurological symptoms of the condition which occur in human patients such as ataxia (lack of motor coordination) and cerebellar […]

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. Entry for the 2018 London Marathon has now closed. Please contact challenge@actionforAT.org to register your interest in one of our guaranteed spots for 2019, or visit our Challenge page for alternative events.  […]

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 […]

Alan McInally Golf Day 2018

24th May 2018 Join Sky Sports football pundit Alan McInally at the stunning Mere Golf Resort this summer for the third edition of his charity golf day. Your Host Alan is a former Scottish professional footballer who played for Ayr United, Celtic, Aston Villa, Bayern Munich and Kilmarnock.  He won his first medal in the […]

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 […]

Vitality London 10,000

28th May 2018 Take in the sights of some of London’s most iconic landmarks in this classic 10k race. Starting on The Mall, you’ll head east to St Paul’s Cathedral and the City of London, before heading back west to finish in front of Buckingham Palace. Key Information • Date: 28th May 2018 • Location: […]