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What is A-T?

First identified in 1957, Ataxia-Telangiectasia (A-T) is a rare genetic disorder that attacks children. It is a degenerative, multi-system disease that affects the neurological and immune systems of children that carry two copies of a defective A-T gene. Although an estimated 2.5 million U.S. residents carry the A-T gene, it is considered a recessive genetic disorder because carriers do not exhibit symptoms. Even more significant, two unsuspecting carriers have a 25% chance of bearing a child with A-T with each pregnancy. Little is known about the disease and misdiagnoses are common.

The gene which is responsible for A-T interacts with cell proteins to repair DNA. When the gene is mutated, it is unable to send signals to repair damaged DNA which results in the progressive breakdown in an A-T child's systems.

How Does A-T Affect You?

A-T exhibits features that are of major concern in medicine today: cancer susceptibility, immune deficiency, progressive neurological deterioration, and premature aging.