Carlos Slim Center for Health Research

Building on the enormous success of the first phase of SIGMA launched in 2010 with the support of the Carlos Slim Foundation to find disease-causing genes through genomic research, the Broad Institute of Harvard and MIT today announced that the Carlos Slim Foundation has made an additional contribution of $74M to launch the second phase (SIGMA 2) of this major biomedical partnership aimed at harnessing genomic medicine for the benefit of Latin America and the world.

Several years ago, researchers sequencing lung cancer genomes encountered a peculiar problem. After combing through thousands of genes in a large number of patients, they had come up with a list of likely genetic suspects tied to the disease. Most of these genes made sense – some had previously been implicated in cancer, others clearly played an important biological role. But the data also pointed to a group of genes encoding olfactory receptors – the proteins that allow us to smell. Why were so many of these genes cropping up? Could these possibly be culprit genes? In the end, researchers found that they were simply red herrings – distractions along the way to pinpointing the mutations driving cancer.

Advances in DNA sequencing technology during the past decade have given scientists powerful tools to peer into the genomes of humans and other species. Despite the efficiency and sophistication of these technologies – known as massively parallel, or next-generation, sequencers – some of the genome’s secrets still remain hidden.

In one of the largest breast cancer sequencing efforts to date, scientists from the Broad Institute, the National Institute of Genomic Medicine in Mexico City, Beth Israel Deaconess Medical Center, and Dana-Farber Cancer Institute have discovered surprising alterations in genes that were not previously associated with breast cancer. 

In back-to-back papers published online July 28 in Science, researchers from the Broad Institute, Dana-Farber Cancer Institute, Johns Hopkins Kimmel Cancer Center, the University of Pittsburgh, and the University of Texas MD Anderson Cancer Center have confirmed genetic abnormalities previously suspected in head and neck cancer, including defects in the tumor suppressor gene known as p53. But the two teams also found mutations in the NOTCH family of genes, suggesting their role as regulators of an important stage in cell development may be impaired.