Entries by @framework

Stem cell transplantation for A-T

31st May 2017 in , /by

Research Project Information Researcher: Dr Ralf Schubert Institute:  Goethe University, Frankfurt Cost: €126,384  Project Completion Date: 31st of 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 used […]

A possible new role for ATM in maintaining healthy mitochondria

28th February 2017 in , /by

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

31st December 2016 in , /by

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 […]

Treating cancer in A-T without exacerbating central nervous damage

3rd December 2016 in , , /by

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

30th September 2016 in , , /by

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 […]

An ataxic mouse model of A-T

17th August 2016 in , /by

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 […]

Childhood Ataxia Telangiectasia Neuroimaging Assessment Project – The Catnap Study

1st August 2016 in , /by

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

13th December 2015 in , , /by

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 […]

Gene therapy for the treatment of Ataxia Telangiectasia

15th May 2015 in , /by

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 […]

Increasing our understanding of Ataxia Telangiectasia

15th January 2015 in , /by

Research Project Information Principal Researchers: Professor Claudio Pignata Institute: University of Naples Federico II, Italy Grant Awarded: £30,000 – In partnership with Sparks and the A-T Society Project Completion Date: January 2015 Project Overview Ataxia Telangiectasia (A-T) is caused by a fault in a gene called ATM (Ataxia Telangiectasia Mutated), which encodes the ATM protein. This protein’s involvement in the regulation of […]

Jenni’s Story

14th January 2015 in /by

Jenni’s Story- Update April 2016 Very sadly, our darling daughter Jenni passed away on 7th January 2016. Like so many other children with A-T, she was diagnosed with cancer (Non-Hodgkinson’s Lymphoma of the Liver), in August 2015. She was fiercely determined to live, so I spent many weeks over the next 5 months in Alder […]

Lilly’s Story

14th January 2014 in /by

Lilly was born by planned C section in May of 2009 and was a healthy normal baby. There were no complications during birth. From birth to two years old everything seemed perfectly normal, we had no reason to suspect hard times were upon the horizon. Lilly took her first steps at 10 and a half […]