The Race for a Cure
A-T has always been an enigma. The physiological and molecular bases of the disorder have remained a mystery despite years of research examining various aspects of the disease. Until scientists understand the basic problem of pathology of A-T, they cannot develop more effective ways to treat the patients. Therefore, the key to understanding A-T lies in figuring out how one defective gene causes so many different symptoms.
In June of 1995, Dr. Yosef Shiloh’s laboratory in Israel, working with many other research labs, isolated the gene that causes A-T. Ever since that time, more and more scientists around the world have become interested in A-T and are conducting many new studies to help figure out this brutal disease.
We now know that the A-T protein (ATM) sends an important signal to several different systems working in our cells by modifying other proteins, and consequently activating or inactivating them. In other words, the A-T protein tells other proteins in the cell that they should work harder, or perhaps stop working for a while, and so it modulates the life cycle of the cell. Researchers have also determined that the "trigger" that causes the A-T protein to start doing its job is when DNA has been damaged in a certain way by radiation, chemicals or cellular metabolites. Therefore, the A-T gene is part of a signaling system that alerts the systems controlling the life cycle of the cell by saying, "Attention! Damage has been caused, slow down your growth and wait until it’s repaired."
Scientists are now beginning to understand how the ATM protein is activated or turned on following damage to a cell’s DNA. This knowledge has long been sought after. In addition, new ATM interacting proteins continue to be identified. Researchers are using various techniques, collectively known as proteomics, to find the other proteins that interact with ATM. Identification of these proteins could have some big implications; for example, if the genes that make the other proteins were damaged, they could cause diseases that look very much like A-T. Importantly, research such as this may also lead to the identification of therapeutic targets for A-T.
In an attempt to accelerate first rate international research to find a cure or life-improving therapies for A-T the A-T Children’s Project funds…
Basic Science Research - The knowledge base that leads to more research tools and potential therapeutic targets. Examples include:
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Animal models for A-T
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ATM signaling in brain cells
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The role of the ATM protein in the immune system
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Mitochondrial dysfunction in A-T cells
Translational Research – Research that bridges the gap between the lab bench and the clinic bedside. Examples include:
Clinical Research - Research that directly aids patients and their physicians worldwide. Examples include:
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Continued support of the A-T Clinical Center at Johns Hopkins Hospital
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Oxidative Stress/Antioxidant clinical trial for A-T
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Continued development of neurological assessment measures for A-T
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Lung function and sleep apnea studies for A-T
To order this free poster, please email info@atcp.org
06.01.07 Date last reviewed