Blog

By now most of us have grown accustomed to – if not entirely comfortable with – the knowledge that we share our bodies with countless microbes. Good and bad, our skin, our mouths, and our guts teem with them. Scientists are now training next-generation sequencing technologies on these bugs, turning up surprises that may shed light on human disease, including cancer.

In the tiny, pinhead-sized wells of a microplate, cultured muscle cells begin to twitch. These mouse cells can grow into long, hearty strands in culture. But when these tendril-like cells are exposed to statins – a drug taken by millions of people to lower cholesterol levels –they start to wither away, mirroring what may be happening in the muscles of some patients.

When Peter Nowell looked under his microscope at some cancer cells at the University of Pennsylvania School of Medicine and noticed that chromosome 22 was unusually short and chromosome 9 was longer than normal, he found what would become known as the first fusion gene. Two genes, each on different chromosomes, had combined – or fused – in an abnormal way in the cancer cell. The year was 1960 and chromosomal abnormalities could then only be identified visually.

Nico Stransky was getting frustrated. A computational biologist working in the Broad’s Cancer Program, Nico was trying to see patterns in the data from the recently sequenced genomes of 70 tumor samples from patients with head and neck cancer. In the study, scientists sequenced the exomes, or protein-coding, portions of the tumor genomes and analyzed the data to reveal mutations in a variety of forms that disrupt the “spelling” of genes in different ways. But the tables of mutation statistics that Nico was looking at could not tell him the full story.