Age-Related Macular Degeneration Diagnostics Based on Genetic Variations

Genetic tests that can identify people at risk of developing AMD, or that can predict the likely rate of progression and end-stage outcome of patients already diagnosed should enable medical professionals to intervene more aggressively at an earlier stage with lifestyle changes and available therapies, thereby changing the course of disease.

There are 15-20 million people with AMD in the United States and more than 50 million worldwide. AMD is caused by degeneration of the macula, the region of the retina responsible for central vision. AMD is unique in that it is a common disease that has recently been linked to common variations in only a few specific genes, presenting opportunities to develop both diagnostic tests and disease-modifying treatments.

In the year 2005 investigators at the University of Pittsburgh (Pittsburgh, PA, UAS) under the direction of Prof. Michael B. Gorin, an ophthalmologist whose career has been dedicated to studying the molecular genetics of hereditary eye diseases, demonstrated a link between chromosome 10, specifically the LOC387715 and HTRA1 genes, and AMD. Optherion, Inc., (New Haven, CT, USA) a company which develops products to treat and diagnose dry and wet AMD and other chronic diseases involving the alternative complement system, has licensed worldwide rights from the University of Pittsburgh to develop diagnostic products for AMD-associated chromosome 10 gene variations.

Three gene loci have been strongly linked to AMD: CFH, CFB, and specific variations on Chromosome 10. About half of patients with AMD suffer from variations in the CFH gene, while 74% of the disease can be explained by variations in the CFH and CFB genes combined. Variations associated with specific gene loci on Chromosome 10 in combination with CFH are associated with about 79% of the disease. It has recently been demonstrated that people with homozygous risk profiles for CFH, CFB, and LOC387715/HTRA1 have as great as a 250 times increased risk of developing AMD.

Colin J. Foster, president and CEO of Optherion, said: The licensing agreement with the University of Pittsburgh adds significantly to our portfolio. Optherion is now in position to develop diagnostic tests based upon the most recently discovered genetic associations of dry AMD. We are optimistic that the innovative discoveries we are licensing will lead to diagnostic tests that can help change the current paradigm of AMD risk assessment and patient care.


Related Links:
University of Pittsburgh
Optherion