News and insights

Subscribe to our newsletter

Ten years ago today, a groundbreaking was published in the journal Nature. It was a first full glimpse of our genetic blueprint, our DNA, made possible in part through the efforts of scientists at the Whitehead Institute Center for Genome Research (which later became part of the Ó³»­´«Ã½).

Today, we commemorate this historic achievement and the scientific knowledge it has made possible.
 

Since 2007, a new type of human stem cell has been available for research study. The inducible pluripotent stem cell, or iPS cell, can go on to develop into any cell type of the body. Its source is a reprogrammed adult cell, not an embryonic cell (ES). When iPS cells were first created, many within scientific laboratories and certainly those external to the bench thought iPS cells would be the solution to the thorny issues surrounding the harvesting of embryonic sources of stem cells. They may in fact prove to be so.

DNA is powerful but delicate. At only 2 nanometers in diameter (a nanometer is the equivalent of one millionth of a millimeter), it is a fine thread that can snap during the process of cell replication. Each of our cells is equipped with DNA repair machinery, which, when it is working properly, detects and immediately repairs any breaks. But if something goes wrong during this process, the consequences can be disastrous. Under rare circumstances, the repair machinery can accidentally reattach a broken-off piece of DNA to the wrong chromosome. The result is a chromosomal translocation.

This week’s of the journal Nature celebrates a milestone in the history of biomedical research: the publication of the first draft of the human genome sequence. Ten years ago this week, two papers, in Nature and in Science, together offered the first glimpse of the genetic instructions written within our DNA.

Fifty years ago, Philadelphia researchers peered through a microscope at cells from a patient with leukemia and made a startling discovery: they saw an abnormally shortened chromosome, the result of two chromosomal pieces breaking off and swapping places in these cancer cells. The sighting of this shuffling – known as a genomic rearrangement or translocation – would lead to a landmark cancer drug tailored to patients whose tumors harbored this genomic alteration.