March 2023 - Spotlight on A-T Webinar

The members of the A-T Alliance were delighted to stage another family focussed “Spotlight on A-T” webinar on the 27th March 2023. The event was hosted by broadcaster and journalist Naga Munchetty and Dr Mark Toms and presentations were given by various speakers from the international A-T research community.

We were joined by A-T families, clinicians and researchers from the USA, Italy, Spain, France, Australia, UK and many other countries around the world who submitted questions to speakers as well as providing feedback and taking part in online polls. The presentations were broadcast live in English and a recording of the full webinar is available to view below.

February 2023 - Understanding and correcting glucose metabolism defects in A-T

We are delighted to announce the commencement on the 1^st of April 2023 of the 5th and final study from the 2022 Alliance Grant Round at IFOM (The FIRC Institute of Molecular Oncology) in Milan, Italy, in partnership with Action for A-T (UK), The A-T Society (UK), BrAshA-T (Australia) and AEFAT (Spain).

The four A-T Alliance organisations have joined forces to fund the £125,820, 36-month project which will be managed by Action for A-T. The project led by Associate Professor Vincenzo Costanzo, will test the hypothesis that ATM (the protein which is missing or not functioning completely in A-T) controls chemical reactions required for the correct use of glucose.

Glucose usage defects could lead to glycogen accumulation which might be toxic for brain cells.

Read more here.

December 2022 - Digital drug prediction informed by genetic analysis of stem cell-derived mini-brains from A-T patients

We are delighted to be supporting a new A-T research study at QIMR Berghofer Medical Research Institute (Australia), in partnership with Action for A-T (UK), The A-T Society (UK), BrAshA-T (Australia) and AEFAT (Spain).

The four A-T Alliance organisations have joined forces to fund the £150,000 36-month project which will be managed by Action for A-T. The project led by Dr Sam Nayler, aims to uncover how specific cell types are affected in A-T and build a model that has discovery and pre-clinical testing capability.

Read more here.

November 2022 - Trial REadiness in A-T (TREAT-AT)

We are delighted to be supporting a new A-T research study at the University of Cambridge (UK), in partnership with Action for A-T (UK), The A-T Society (UK), BrAshA-T (Australia) and AEFAT (Spain).

The four A-T Alliance organisations have joined forces to fund the 36-month £250,000 project which will be managed by Action for A-T.

The project entitled Trial REadiness in Ataxia Telangiectasia (TREAT-AT) led by Dr Rita Horvath and Dr Anke Hensiek will study the clinical symptoms, blood biomarkers and brain imaging findings in a subgroup of A-T caused by the so called “UK mutation”.

Read more here.

November 2022 - Study of Natural Killer Cells in A-T

We are delighted to be supporting a new A-T research study at the Bambino Gesù Children’s Hospital (Rome, Italy), in partnership with Action for A-T (UK), The A-T Society (UK), BrAshA-T (Australia) and AEFAT (Spain).

The four A-T Alliance organisations have joined forces to fund the 24-month £91,000 project which will be managed by Action for A-T.

The project entitled Study of natural killer cells in A-T pathogenesis and their therapeutic implications led by Dr Margherita Doria (pictured on the right) and Dr. Maria Giovanna Desimio, will endeavour to develop predictive cancer tests, and provide an important building block for the design of innovative strategies to lengthen and improve lives.

Read more here.

September 2022 - Brain-penetrating ATM gene therapy

We are delighted to be supporting a new A-T research study at the University of Nottingham in partnership with Action for A-T (UK), The A-T Society (UK), BrAshA-T (Australia) and AEFAT (Spain).

The four A-T Alliance organisations have joined forces to fund the 24-month £147,304 project which will be managed by Action for A-T.

The project entitled Brain-penetrating ATM gene therapy led by Dr James Dixon, will endeavour to combine gene therapy and editing to engineer an effective therapy to treat A-T in the brain.

Read more here.

March 2022 - Spotlight on A-T Webinar

Following the success of the inaugural “Spotlight on A-T event” in 2021, Action for A-T and the members of the A-T Alliance staged a family focussed webinar event to highlight some of the current A-T research projects which are taking place around the world. Key stakeholders from the global A-T community provided a concise overview of their current research studies as well as answering questions.

The webinar took place on the 7th March 2022 to an audience from 25 countries and was hosted by Broadcaster and Journalist, Naga Munchetty and chair of the Action for A-T Research Advisory Committee, Dr Mark Toms. There were six presentations and the line up of speakers and their presentation topics are listed below

Borja Saez & Marc Guell – Resetting the immune system in A-T
Manuela Pellegrini – Hematopoietic pogenitor cell transplantation and gene therapy for A-T syndrome
Ernst Wolvetang – Targeting cellular ageing processes in A-T
Lisa Bunn  & Munira Khan – The A-Team collaborative: Producing healthcare guidance for children and young people with A-T
Svetlana Khorenkova – Why do Ataxia Telangiectasia neurons die?
Taylor Fields – N-acetyl-L-leucine for A-T

The presentations were broadcast live in English and a recording of the full webinar is available to view below.

October 2021 - £150,000 Grant Round opens on 27 October

Action for A-T and BrAshA-T have joined forces to provide additional funding to the A-T research community. A wide range of research applications will be considered for projects up to 3 years in duration with a maximum value of £150,000. The grant round will formally open on the 27th October 2021 and applications must be received by Monday 3rd January 2022. Interested parties should visit https://actionforat.org/research/apply-for-a-research-grant/ for more details.

June 2021 - A-T Alliance Join forces to fund new A-T research Study

Four members of the A-T Alliance have joined forces to fund a new A-T research study at the University of Texas. Action for A-T, The A-T Society, AEFAT and BrAshA-T will equally fund the 12 month project which will be managed by the A-T Society. The project entitled “A-T cerebellar neurodegeneration and inositol phosphate signalling” led by Tanya Paull, will explore a link between A-T cerebellar neurodegeneration and inositol phosphate signalling, a well-established signalling pathway required for neuronal function. The project is listed under the studies section and more details are available here.