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 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.