AT Society Scientific Advisory Board
Research Strategy – April 2026
Ataxia Telangiectasia is a complex multi-organ disease and we are interested to support high quality research covering any aspects of relevance to the disorder. The four main strategic priorities detailed below relate to strengthening collaborative research, enabling clinical trial readiness, enabling research across the full age range and clinical spectrum of AT, and building researcher capacity. Within the priority areas we will support research that addresses fundamental / basic science, very early-stage development of mechanistically driven interventions, medical aspects of AT such as cancer and lung disease (which remain major causes of mortality), and wider wellbeing, such as mental health and quality-of-life.
The specific strategic priorities are as follows:
1. Strengthening collaborative research in AT and related disorders
a. Facilitating the formation of international research networks and clinical trial consortia working in AT and related disorders
b. Strategic partnerships with funders / organisations to promote research into AT and related disorders using co-funding models
c. Engaging with industry partners to support research that meets the needs of people with AT and related disorders
d. Ensuring that AT and related disorders are included in larger rare-disease research initiatives, e.g. genetic ataxia syndromes, cancer predisposition syndromes, inherited respiratory disease etc.
2. Enabling clinical trial readiness in the UK and beyond
a. Supporting infrastructure for clinical trials through the UK National AT Clinics
b. Supporting work into outcome measures for clinical trials that are relevant to patients and families, and that address the full spectrum of multi-system involvement in AT and related disorders
c. Continuing to facilitate the integration of the UK into international research initiatives in AT and related disorders
d. Supporting the development of ‘patient / parent experts’ who can act in PPI roles for clinical trials
3. Enabling research across the full age and disease spectrum of AT from newborn to late adulthood
a. Supporting research spanning basic through to clinical into the mechanisms of disease progression and disability across the full spectrum of AT and related disorders
b. Continuing to support fundamental research into AT, including development of better disease models that mimic the human neurodegeneration in AT to facilitate the development of treatments
c. Advancing research into early detection and evolution of cancer, alongside emerging gene therapies for people with AT and related disorders
d. Establishing a framework for systematic and routine collection of data and biosamples from people with AT and related disorders across the age-span
e. Supporting co-design of research with people affected by AT and related disorders
f. Promoting research into Mental Health, Wellbeing, Quality of life and symptom control for people with AT and related disorders
g. ‘Big data’ in a rare disease setting: Harnessing and linking national and international datasets to understand outcomes and health service use for people with AT and related disorders. Leveraging AI to exploit this large and complex data.
h. Encouraging AT researchers to communicate their results with patients, families and donors
4. Capacity building for research in AT and related disorders in the UK
a. Targeted support for early career researchers in AT and related disorders
b. Identifying larger mainstream research funding streams to align our research with, in order to maximise the impact of our own modest research budget and use it to seed research at the scale needed to better understand, manage and ultimately, cure AT and related disorders.