By Kevin Davies
April 15, 2005 | Three groups have identified a gene mutation involved in the onset of age-related macular degeneration (AMD), a leading cause of blindness that affects some 7 million people in the United States. The new gene, published in three reports last month in Science, may be responsible for 50 percent of AMD cases.
One team -- a joint effort between Boston University School of Medicine, the University of Texas Southwestern Medical Center in Dallas, and Sequenom -- used SNPs to interrogate a previously suspect region of chromosome 1. Sequenom's MassARRAY system -- a DNA analysis platform for measuring variations in trace amounts of genetic material -- helped pinpoint an AMD mutation in the gene for complement factor H (CFH).
Individuals carrying at least one copy of the mutant CFH gene have roughly three times greater risk of developing AMD. The mutation might reduce binding of C-reactive protein, thus triggering inflammation in the retina.
Sequenom's CSO, Charles Cantor, said he was delighted that the MassARRAY system "helped contribute to the discovery of the genetic variations associated with AMD."
Sequenom hopes its positive scientific news -- the company recently published the identification of a novel breast cancer susceptibility gene -- will boost its financial outlook. The company has flirted with de-listing from the Nasdaq exchange for several months, as its stock price hovers above the $1 mark. CEO Toni Schuh stepped down in February.
Edwards, A.O. et al. "Complement Factor H Polymorphism and Age-Related Macular Degeneration" Science DOI: 10.1126/science.1110189.