Entries by @framework

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 […]

Tilla and Ines’ Story

14th January 2013 in /by

Tilla (aged 7) is a funny, caring and beautiful Danish girl, with many friends who lives in a refurbished, old factory building in Copenhagen, Denmark with her little sister, mom and dad. She collects scraps, dries flowers and loves to dress up and play with her many girl friends. Tilla was almost 6 when we […]