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.
The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of these iPS cells.
- 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
- 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
Anand Swaroop Ph.D. (NEI), Yu Holly Chen Ph.D. (NEI), Milton English (NEI), Hiroko Shimada-Ishii Ph.D. (NEI)
Shimada H, el al. In vitro modeling using ciliopathy patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations [PMID 28700940]
- Research Material: NIH will not pursue patent prosecution for this technology