Summary:

The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of iPS cells.

Description of Technology:

Approximately one-third of non-syndromic retinal dystrophies involve a defect in a ciliary protein. Non-syndromic retinal ciliopathies include retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis (LCA). Many CEP290-LCA patients also exhibit auditory and olfactory defects. Induced pluripotent stem cells (iPS) cells were derived from patients with LCA and unaffected relatives. 

Potential Commercial Applications:

• Screening for agents to treat patients with CEP290-associated ciliopathies such as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis 

Competitive Advantages:

• Extensive characterization, including use in making 3-D retinal organoids and optic cup organoids
• Complement studies with model organisms and examine retinal dystrophies relevant to humans