Skip to main content
Premium Trial:

Request an Annual Quote

Sequenom Shares Skyrocket 19.4 Percent on News of Mutation Discovery

NEW YORK, March 10 (GenomeWeb News) - Shares in Sequenom were trading up 19.35 percent, or $.24, at $1.48 in unusually heavy volume late this afternoon after the company said its flagship MassArray genotyping platform helped a team of researchers uncover a gene mutation linked to age-related macular degeneration.

 

The researchers, from Boston University School of Medicine, the University of Texas Southwestern Medical Center at Dallas, and Sequenom said the variation "is the strongest known risk factor associated" for the disease.

 

The study, which appears in the March 10 online issue of Science, found that the gene is believed to be responsible for roughly half of all cases of AMD, Sequenom said.

 

To arrive at their results, the researchers tested AMD-associated SNPs in a region of 14 million base pairs on chromosome 1q25-31, on which a gene for AMD had been previously located in families with multiple persons affected with AMD.

 

Using two independent case-control populations, the researchers found that "possession of at least one copy of histidine at position 402 of complement factor H (CFH) increased the risk of AMD almost three-fold," Sequenom reported in a statement.

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.