DNA microarrays representing several thousand genetic elements are used to fingerprint and characterize biological processes. We also use this technology to identify risk factors for eye diseases and help map inherited eye diseases. We are mapping genes for a new macular dystrophy, inherited uveitis, and retinal detachment. Other projects include understanding gene expression patterns during corneal inflammation, squamous cell carcinoma, and in specialized eye tissues such as the ciliary body.
For specific families, we are using next-generation DNA sequencing to discover the underlying genetic cause of disease.
New Inherited Eye Disease Discovered
Researchers have found the existence of a new, rare inherited retinal disease. Now the search is on to find the
Autosomal dominant neovascular inﬂammatory vitreoretinopathy (ADNIV) is an autoimmune disease of the eye without systemic features.
This eye-speciﬁc, inﬂammatory condition
Grant to Study Genetics of Retinal Detachment
We received grant support from the Fight for Sight organization to study a new form of inherited retinal detachment.
In collaboration with Alexander Bassuk, M.D., Ph.D., we identified in new gene variation that causes Knobloch Syndrome.