Harvard College

Other

Eliot L Berson

Thaddeus Peter Dryja

Ulf Eriksson

Andr&aacute;s Simon

Hioyuji Yamamoto

Thaddeus P Dryja

Thaddeaus P Dryja

The invention relates to mutations in the gene encoding 11-cis retinal dehyrogenase. The mutations in the gene and in the resulting encoded protein are correlated to ocular disorders, such as fundus albipunctatus.

Mutations in nucleic acid molecules encoding 11-CIS retinol dehydrogenase, the mutated proteins, and uses thereof

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.

Growing community of inventors

Boston, MA, United States of America

Eliot L Berson