The Broad Institute of the Massachusetts Institute of Technology and Harvard received an award earlier this month from the National Heart, Lung, and Blood Institute (NHLBI) for more than $18 million to support genomic studies aimed at unveiling the genetic variations that underlie common human diseases.
These funds will help to build a common data resource for the entire biomedical community that systematically combines genetic analyses of heart, lung, blood, and sleep disorders with detailed information about disease characteristics in a range of patient groups.
“The research funded by this award should result in new insights into how genetic variation contributes to health and disease,” said Stacey Gabriel, principal investigator of the grant and director of the Genetic Analysis platform and the National Center for Genotyping and Analysis at the Broad Institute.
Known as the candidate gene association resource, or CARE, this project will survey the DNA of 50,000 individuals, using large-scale genotyping technologies and advanced informatics to highlight the differences contained in specific genes of interest. These “candidate” genes represent a prioritized list of the likely sources of inherited variation that are most relevant for human disease.
“The sheer scale of this project with genetic data collected from as many as 50,000 participants allows for more in-depth analyses of diseases across multiple races and ethnicities,” said NHLBI Director Elizabeth G. Nabel. “The database will be a tremendous resource for scientists – speeding identification of risk factors and genetic variants associated with disease and disorders,” Nabel added.
While inherited differences within our genes likely play roles in common diseases that affect major organ systems, such as the heart, lungs and blood, their contributions appear to be complex and multifaceted, and therefore, difficult for scientists to identify. The sequencing of the human genome and recent completion of the Haplotype Map (“HapMap”), a comprehensive catalog of common genetic differences in humans, has laid the groundwork needed to begin this task.