People made a lot of leaps in 2012. Some were more metaphorical, like the two scientists who shared a Nobel Prize for work showing that human adult cells can be reprogrammed into stem cell-like forms. Other leaps this year were more literal, like daredevil Felix Baumgartner's jump from the stratosphere.
Taking Cells Back To The Start
British scientist John B. Gurdon and Japanese researcher Shinya Yamanaka's work was separated by about four decades. But they shared the laurels this year, winning the 2012 Nobel Prize in Physiology or Medicine.
Gurdon's experiments with frog eggs showed that every cell in the body contains the same set of genetic instructions for building an entire organism. This laid the foundation for Yamanaka's work investigating pluripotency, or the ability of embyronic cells to develop into multiple cell types, like muscle, liver or nerve cells. By using certain genes, Yamanaka and colleagues were able to reprogram first mature mouse cells, then mature human cells, into what they called induced pluripotent stem cells, or iPS cells.
Though technique is far from perfected, the ability to reprogram cells has opened a vast and exciting frontier in medicine. Someday, people who need organs could have a liver or skin graft grown from iPS cells made from their own tissues. Researchers could also study the roots of diseases by making iPS cells from patients and comparing them to cells from healthy individuals.
Here Comes The Sun Temple
In 2012, the hoopla over a supposed Maya apocalypse prophecy – which a host of skeptics, including modern Maya, scholars and NASA vociferously debunked – overshadowed a great archaeological find that could shed new insights on ancient Mesoamerica.
In July, Brown University archaeologists announced that they had found the Temple of the Night Sun in Guatemala, in the ancient city of El Zotz. The temple is adorned with 5-foot-tall masks showing the changing face of the Maya sun god: a sharklike face depicting the rising sun, the noonday sun shown cross-eyed and drinking blood, and jaguar-like masks describing the setting sun.
The temple was found next to a tomb believed to contain the first ruler of El Zotz, who lived around 350 A.D., and the solar deity's association with new beginnings may have meant that the temple was a deliberate depiction of the birth of a new dynasty.
“The sun itself would have been grafted onto the identity of kings and the dynasties that would follow them,” Brown University archaeologist Stephen Houston said in a press statement in July.
'Google Maps' For The Human Genome
Scientists sequenced a lot of genomes in 2012: the tomato. The pig. The bonobo. The Human Genome Project completed its work in 2003, and nine years later, the followup has arrived in the form of the Encyclopedia of DNA Elements Project, or ENCODE.
ENCODE was a massive worldwide effort that enlisted more than 400 scientists spread across 30 research groups.
Scientists have known for a long time that the the parts of the genome that don't code for protein sequences – sometimes known as “junk DNA” – can play some role in regulating gene expression. Plus, the human genome is mostly noncoding DNA, with the 20,000 genes that make proteins in our bodies taking up only about 1 percent of our genome. ENCODE sought to probe this remaining 99 percent.
Whereas the Human Genome Project “was like getting a picture of Earth from space,” Broad Institute president Eric Lander told the New York Times, “It doesn’t tell you where the roads are, it doesn’t tell you what traffic is like at what time of the day, it doesn’t tell you where the good restaurants are, or the hospitals or the cities or the rivers.”
ENCODE, Lander (who was not involved in the project) says, is like Google Maps – a layer of functional information pasted on top of what we know about the landscape of the human genome.
The noncoding DNA turns out to be involved in a complex regulation system full of genetic switches that can turn genes on and off. In one of the dozens of ENCODE papers published in September, researchers found that such gene switches were implicated in many human diseases including celiac disease, Crohn's disease, lupus and multiple sclerosis.
Now that scientists have a basic map, they can start exploring human genetics even further, pushing the frontier of research ever further in 2013 and beyond.