We drive innovative research, develop potential therapies, organize scientific conferences and sponsor a multidisciplinary clinical center for ataxia-telangiectasia (A-T), a fatal genetic disease that attacks children, causing progressive the loss of muscle control, cancer, and immune system problems.
To encourage and support excellent laboratory research which will accelerate the discovery of a cure or possible therapies for ataxia-telangiectasia by:
- awarding competitive research grants to top scientists using a peer-review board comprised of top scientists and physicians,
- organizing and sponsoring workshops and symposiums in order to encourage cooperation among laboratories and to generate new research strategies, and
- working with Congress and the National Institutes of Health to encourage the funding of active research on A-T by agencies of the U.S. government.
- To improve the accurate and timely diagnosis of A-T patients by increasing public awareness and by educating physicians.
- To develop and maintain an international patient registry of A-T patients with objective, neutral oversight, while leaving ultimate control in the hands of treating physicians, so that up-to-date clinical information about A-T patients can be obtained for researchers and so that when a treatment is developed, all patients can be reached through their physicians.
- To support and oversee a clinical center and information clearinghouse at a top-rated, world-class medical center for the evaluation of A-T patients by a multidisciplinary team of specialists, and for the accumulation of experience in managing the many facets of A-T such as ataxia, cancer, and immune problems.
- To develop quantitative endpoints for objectively measuring the progression rate and severity of the symptoms of A-T.
- To maintain and enlarge a tissue/cell bank with objective, neutral oversight, and control in order to ensure free access of existing and new researchers to A-T patient specimens.