Ataxia-Telangiectasia-Information-Page

Ataxia Telangiectasia Information Page


What research is being done?

NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD. 

Information from the National Library of Medicine’s MedlinePlus
Ataxia Telangiectasia.

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What research is being done?

NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD. 

Information from the National Library of Medicine’s MedlinePlus
Ataxia Telangiectasia.

NINDS-supported researchers discovered the gene responsible for A-T, known as ATM (ataxia-telangiectasia mutated) in 1995. This gene makes a protein that activates many (probably more than 700) other proteins that control cell cycle, DNA repair, and cell death. Without it, cells are unable to activate the cellular checkpoints that protect against the damage of ionizing radiation and other agents that can harm DNA. In addition to supporting basic research on A-T, NINDS also funds research aimed at A-T drug development, including development of animal models, gene and stem-cell based therapies, and high-throughput drug screens. The NINDS also leads a trans-NIH A-T Working Group whose members include NINDS, NHLBI, NIEHS, NCI, NEI, NIGMS, NHGRI, NIA, NIAID, NICHD, and ORD. 

Information from the National Library of Medicine’s MedlinePlus
Ataxia Telangiectasia.


Definition
Definition
Treatment
Treatment
Prognosis
Prognosis
Clinical Trials
Clinical Trials
Organizations
Organizations
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Publications
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