About AT
Ataxia Telagiectasia is a brutal, progressive, rare genetic disease that affects about 600 Americans. The disease attacks children causing loss of muscle control, cancer, and immune system problems.
- Children are born seemingly healthy, but as time moves on, they become symptomatic. Often times, the children are diagnosed as having cerebral palsy until it becomes clear that symptoms with regard to balance issues are not static.
- The physiological and molecular bases of this disease have remained a mystery despite years of research. The key is understanding how one defective gene causes so many symptoms.
- In 1957, Dr. Elena Broder gave AT its name.
- In 1995 Dr. Yosef Shiloh from Tel Aviv University isolated the gene that causes AT. This led to an increased interest in further research
- Simply put, the AT protein (ATM) sends a signal to various systems within our cells, modifies them, and then activates them or deactivates them. This modulates the life cycle of the cell and keeps the damaged cells from repairing themselves.
- Children with AT come from all races and ethnicities
- Carriers of the mutated copies of the AT gene are about 1 in 100 in the general population
- Johns Hopkins has the largest AT clinic in the world, but important research is being done in the United States and throughout the world.
- Research grants are issued by the National Institute of Health as well as the AT Children’s Project in Florida. To view the Children’s Project click on the link to their website.
