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Curing Heritable Blindness

The goal of the Science Behind Curing Heritable Blindness Research Program of Excellence is to provide effective treatment and, where possible, prevention, for every form of inherited retinal disease regardless of how rare or how advanced. In order to effectively achieve this goal, enhanced understanding of disease mechanisms and the application of treatment to best interfere with the disease processes are being pursued. Included among the diseases studied are disorders leading to retinal degeneration and glaucoma.

This goal consists of several components including:

1) identifying the genes and mutations that cause humans to be born blind or to go blind;

2) determining the functions of the genes and their protein products associated with blindness;

3) determining genetic and protein interactions as well as protein complexes and networks that contribute to blindness;

4) developing animal models (primarily mouse and zebrafish models) to aid in determining how mutated genes lead to blindness;

5) utilizing animal models to develop interventions and treatments;

6) developing and utilizing induced pluripotent stem cells (IPSCs) to advance knowledge about mutations and to develop therapies;

7) implementing treatments for human eye diseases.



Val C. Sheffield, MD, PhD

Edwin M. Stone, MD, PhD