Novartis Ag

Harvard College

Massachusetts Eye and Ear Infirmary

Whitehead Institute

Thaddeus Peter Dryja

Stephen H Friend

Chad Eric Bigelow

Seshidhar Reddy Police

Eliot L Berson

Vivian Choi

David W Yandell

Michael Roguska

Joy Gispati Ghosh

Eric C Carlson

Shawn Michael Hanks

Joanna Vrouvlianis

Akshata Ninad Gujar

The present invention relates to viral vectors that are capable of delivering a heterologous gene to the retina and in particular delivering RLBP1 to RPE and M&#xfc;ller cells of the retina. The invention also relates nucleic acids useful for producing viral vectors, compositions comprising the viral vectors and uses of the compositions and viral vectors. The invention also relates to methods of delivering and/or expressing a heterologous gene to the retina, improving the rate of dark adaption in a subject and treating RLBP1-associated retinal dystrophy.

Viral vectors for the treatment of retinal dystrophy

The invention provides compositions for rendering a vitreous cavity visible during a surgical procedure to alleviate a structural disorder caused by the vitreous in an eye, and methods of using the compositions. The compositions are vitreous delineating agents that comprise a hyaluronan binding peptide linked to an optically detectable moiety. Such compositions can be in a formulation that may be a solution, a suspension, or an emulsion, and would be injected into the vitreous shortly prior to use. The composition may additionally contain a therapeutic agent, a diagnostic agent, or a chemosensing material, in use, the composition marks or delineates the vitreous by binding preferentially to the hyaluronan that permeates the vitreous humor and binding little or not at all to surrounding tissues such as the retina. The interface between the labelled vitreous humor and the non-labelled surrounding vital tissues produces a visible signal, thereby allowing a surgeon to clearly visualize the entire vitreous cavity and distinguish it from vital ocular structures. Use of the method improves the accuracy and safety of a vitrectomy and thus prevents suboptimal outcomes or the need for repeated procedures. The compositions comprising chemosensing material are useful as long-lasting biosensors, which when used in the vitreous enable repetitive, non-invasive, in vivo measurements of metabolites or pharmacologic agents in the vitreous of animals or humans.

Compositions and methods for visualization of the vitreous

This invention relates to nucleic acid, or fragments thereof, encoding the retinoblastoma polypeptide, the retinoblastoma polypeptide itself, methods of detecting a defective retinoblastoma gene in human patients, and methods of treating these patients.

Retinoblastoma nucleic acids

Detection of proteins whose absence is associated with a neoplasm

Diagnosis of retinoblastoma

The invention generally provides a method of diagnosing in a human subject an increased likelihood of developing or transmitting to future generations a disease in which a mutant form of a human photoreceptor protein is a causative agent. The method involves analyzing the DNA of the subject to determine the presence or absence of a mutation in a gene for a photoreceptor protein.

Diagnosis of hereditary retinal degenerative diseases

A probe/primer which includes a substantially purified single-stranded oligonucleotide containing a region the sequence of which is identical to the sequence of a six-nucleotide, single-stranded segment of a gene encoding a mutant form of a human photoreceptor protein, which segment includes the mutation; and methods of making and using such probe/primer.

A probe/primer which includes a substantially purified single stranded oligonucleotide containing a region the sequence of which is identical to the sequence of a six-nucleotide, single-stranded segment of a gene encoding a mutant form of a human photoreceptor protein, which segment includes the mutation; and methods of making and using such probe/primer.

Diagnosis of hereditary retinal degenerative disease

Growing community of inventors

Milton, MA, United States of America

Thaddeus Peter Dryja