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A-TAtaxia Telangiectasia (form of muscular weakness)
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Finn and his family benefit from the support and care the A-T society provides families in their position.
We hope he inspires more people to support the A-T Society."
"We hope that this work will lead to new therapies to prevent symptoms in those with A-T disease," says Ronald Hart, a professor in the Department of Cell Biology and Neuroscience.
They have begun working with the A-T Clinical Center at Johns Hopkins University, Baltimore, Md., collecting blood samples from children with the disease as well as their parents who carry the genes in order to reprogram them into stem cells.
"The identification of a single gene responsible for A-T should enable clinical geneticists to offer reliable diagnostic tests, including prenatal diagnosis and carrier detection to all A-T families," report Yosef Shiloh of the Sackler School of Medicine at Tel Aviv University and his colleagues in the June 23 Science.
When both members of a couple carry the A-T mutated (ATM) gene, their children have a one in four chance of having the disease.
"In these high rates of recombination, one finds a ready explanation for why A-T patients get cancer," Meyn concludes.
But people with A-T have 100 times the number of these mix-ups, he reported in mid-May in Orlando, Fla., at the American Association for Cancer Research meeting.
Overall, blood relatives of A-T patients proved three to four times as likely to develop cancer from all causes as their spouses, who served as controls, the team reports in the Dec.
Women who underwent diagnostic medical procedures that involved low doses of X-rays -- such as mammograms, chest X-rays and gastrointestinal imaging -- more than five years earlier than the study's beginning faced six times the risk of breast cancer seen in other potential female carriers of the A-T gene.