Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disorder involving cerebellar ataxia, immunodeficiency, oculocutaneous telangiectasia, chromosomal instability, hypersensitivity to ionising radiation and a predisposition to malignancy. Female A-T heterozygotes may have an increased risk of breast cancer. Knowledge of this little-known condition could hold crucial clues for understanding many other serious conditions that affect everyone.
The purpose of the day was to promote awareness, interest and understanding of A-T amongst medical and healthcare professionals, with a view to improving management and aiding the diagnosis of A-T.
The day was open to professionals planning to specialise in, or already specialising in, paediatrics, neurology, genetics, oncology and immunology, who would like to learn about this possibly under-diagnosed condition. This includes post-graduates, medical students, therapists and those who already have an involvement with A-T. It was an opportunity to meet other interested professionals and to stimulate discussion about A-T.