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ATP-Binding Cassette Transporter (ABCA4) Gene And Methods to Screen, Diagnose, and Treat Inherited Retinopathies

Technology Benefits

- Identification of small molecules and proteins to treat STGD, RP19, CRD, and AMD, including the 'dry' form of AMD;- Diagnostic applications allow physicians to determine a risk for patients demonstrating AMD and other eye diseases;- The market for these eye diseases, especially AMD, is growing with the aging baby boomer population;- Enabling diagnostics of common retinopathies

Detailed Technology Description

None

*Abstract

Mutations in ABCA4 have been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt Macular Dystrophy (STGD), retinitis pigmentosa (RP19), and cone-rod dystrophy (CRD). Individuals heterozygous for some ABCR mutant alleles may be predisposed to develop the multifactorial disorder age-related macular degeneration (AMD). Studies have demonstrated that ABCA4 is key to the transport of retinal in the photoreceptors and may be a target for the development of therapies for these eye diseases. Regulation of ABCA4 activity may be the key to a successful strategy for the treatment of AMD. The present invention provides nucleic acid and amino acid sequences of ABCA4 and mutated sequences associated with a spectrum of genetically determined retinal disorders including macular degeneration. The invention enables molecular diagnostics for these retinopathies and susceptibility to AMD.

*Principal Investigator

Name: Richard Lewis

Department:

Name: Michael Dean

Department:

Name: Mark Leppert

Department:

Name: James Lupski

Department:

Name: Jeremy Nathans

Department:

Country/Region

USA