Ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is a rare genetic condition that causes neurodegeneration, reduced immune response, premature ageing and cancer development. It first appears in early childhood as delayed development of motor skills, poor balance, and slurred speech. Patients with A-T are frequently wheelchair-bound by their teens, and it is generally fatal to patients by the time they reach their twenties.

A-T is derived from the medical terms for uncoordinated movement (ataxia) and web-like blood vessels (telangiectasia), which appear on the cheeks, ears and eyes.

QIMR is presently conducting the only A-T research in Australia. Our research is examining the gene responsible for this disease, called ATM (Ataxia-telangiectasia mutated), which usually repairs damaged DNA. If the gene is not functioning properly, the DNA can become broken and cause cells to malfunction all over the body, hence the variation of symptoms in A-T.

Our research focuses on:

  • Investigating how the ATM protein functions in this disease, with a view to solving its role in brain function, radiation sensitivity and susceptibility to develop cancer.
  • Studying the response of human cells to radiation and DNA damage.
  • Investigating the relationship between A-T and other genetic instability syndromes.

Research group involved in A-T research: