New research questions emerge as medical needs continue to evolve, and as we improve our understanding of Ataxia Telangiectasia and potential treatments for the condition. Although significant advances have been made in some areas of research over the last few decades, other areas have not benefited to the same degree and we continue to have many gaps in our knowledge.

We recognise that there are many unanswered questions in the quest to find treatments or a cure for A-T but following a consultation with patients, carers and health professionals the following key areas have been identified as unmet needs which should be prioritised:

Neurodegeneration

Why is the neurodegeneration in A-T progressive and can we develop model systems for study; biomarkers for disease progression; delivery of ATM to neurones and further understand the underlying causes of dysarthria?

Cancer predisposition and treatments

There is a lack of clinical expertise and no consensus regarding the optimal strategy for treating cancer in A-T. Safe and effective cancer treatments are urgently required.

A-T as a metabolic disorder 

Little is known about the basis underlying metabolic abnormalities in A-T such as fatty liver, diabetes, etc.

Increased fatigue

There is an urgent need for effective fatigue management techniques and evidence based clinical guidance about the negative impacts of fatigue on overall health.

Emotional and physiological needs

There is a current lack of wellbeing management and education resources for schools/colleges. Strategies are urgently required to meet these needs.

Technology

We are keen to embrace all forms of technology to improve the quality of life for people with A-T and to assist with the collection of research data. We are particularly interested in technology which increases independence, and aids everyday tasks such as reading, typing, speech, etc.