The Year in Biomedicine

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Reprogramming Stem Cells
Following the announcement late last year of a revolutionary technique to make stem cells from adult skin cells, scientists have now used the approach to generate stem cells from patients with a number of different conditions, including Parkinson's disease, type 1 diabetes, muscular dystrophy, and Down syndrome. The cells can be differentiated into the cell type affected in each disease, such as motor neurons in Parkinson's, allowing scientists to examine the molecular mistakes that might underlie these diseases and test drugs to prevent them. (See "Patient-Matched Stem Cells.") Doug Melton's team at Harvard took the process one step further, transforming one type of pancreatic cell into another without first making stem cells.

Scientists have also developed new variations of the reprogramming technique--most important, eliminating the need to use viruses that can potentially integrate into the host cell's genome and raise risk of cancer. (See "Stem Cells without Side Effects.")

Fast Sequencing
A little-known genomics startup made a splash in October by announcing a $5,000 genome. Rather than selling its technology, Complete Genomics, based in Mountain View, CA, will offer pharmaceutical companies and others a sequencing service. The claims met with some skepticism in the scientific community. A scientist at a recent genomics conference reportedly offered representatives of Complete Genomics $5,000 in cash for his genome, but was declined.

In August, Cambridge-based Knome doled out its first product, an individual's genome, privately sequenced for $350,000 and delivered complete with an engraved silver box. Another of Knome's customers, Dan Stoicescu, a millionaire living in Switzerland, announced plans to make his genome public. That data will join just a handful of complete human genomes.

The Brain Unveiled
In July, scientists unveiled the first detailed map of the network of connections in the human cortex. The feat required a combination of network analysis and a specialized version of magnetic resonance imaging that can measure the long thin wires that connect brain cells. The map revealed a highly interconnected central hub in the back of the brain.

A photo essay and interactive movies published online in November show brain images generated with this approach, called diffusion spectrum imaging.