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Sequenom Receives $2.2M to Study Genomic Underpinnings of Blood Disease

NEW YORK, Nov. 8 – Sequenom said Thursday it received a $2.2 million grant from the National Institutes of Health to conduct a genome-wide disease association study.

Sequenom of San Diego said it will use its MassArray technology and 100,000 SNP assays to look for genetic variations among people with the blood disease beta-thalassemia.

“The potential for using genome-wide screens to identify disease associations is enormous and should ultimately improve the very manner in which new diagnostic and therapeutic applications are designed," Toni Schuh, Sequenom’s CEO, said in a statement. 

Thalassemia refers to a genetic blood disorder that results in the defective production of hemoglobin. Beta-thalassemia is a common type of thalassemia which is prevalent in Southeast Asia, said Sequenom. 

The company, which will work with Mahidol University in Thailand on the study, hopes to determine the genetic factors that explain why people with the same genotype can suffer from different degrees of disease severity.

"This study will take a unique, unbiased approach to identifying modifiers of disease severity in beta-thalassemia patients," Andi Braun, Sequenom’s chief medical officer and the study’s principal investigator, said in the statement. 

"We anticipate that this hypothesis-free approach will also reveal genes that may have been overlooked because of expectations based on current understanding of biology,” he added.

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