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Genomics Gets Really Personal
This year may be remembered as the turning point for personal genomics, when broad gene testing for individuals finally came within reach. Two genomic pioneers–James Watson, codiscover of the structure of DNA, and Craig Venter, leader of the private effort to sequence the genome–published the sequence of their own genomes, revealing personal disease risks. (See “The $2 Million Genome” and “Craig Venter’s Genome.”)

Taking advantage of the explosion in human genomics data, several companies launched direct-to-consumer gene-testing services that analyze an individual’s genetic risk of contacting a range of diseases, including Alzheimer’s, diabetes, and cancer. (See “Your Future, on a Chip” and “Your Personal Genome.”) Critics say it’s not yet clear how useful such tests will be in preventing disease. So with price tags ranging from about $1,000, for a microarray analysis that analyzes a million genetic variations, to $350,000, for a full genome sequence, it might be worth waiting.

The Microbial Menagerie
In 2007, scientists documented the microbial world more closely than ever before, thanks to sequencing technologies that allow analysis of entire microscopic communities, an approach known as metagenomics. In the process, they have uncovered a wealth of genomic diversity that could be applied to everything from renewable energy to medicine. For example, enzymes found in microbes dwelling in the termite gut might inspire more-efficient ways of making cellulosic ethanol. (See “Termite Guts Could Boost Ethanol Efficiency.”)

Our own microbial inhabitants are getting special attention, as part of the newly announced Human Microbiome Project–a massive plan sponsored by the National Institutes of Health to document the microbes that live within us and play a vital role in immune function and nutrition. (See “Our Microbial Menagerie” and “The Next Human Genome Project: Our Microbes.”)

Stem Cells without Embryos
Embryonic stem cell research, particularly therapeutic cloning, floundered this year, thanks to continued funding restrictions, technical issues, and ethical concerns. For example, Harvard scientist and champion cloner Kevin Eggan was given permission to start human cloning experiments almost two years ago but has not yet started due to lack of human eggs. (See “Human Therapeutic Cloning at a Standstill.”)

Last month, however, scientists in Wisconsin and Japan announced an exciting potential alternative– a relatively easy method to reprogram adult cells to behave like embryonic stem cells without the need for embryos or eggs. (See “Stem Cells without the Embryos.”) Further work needs to be done to determine the exact properties of these new cells and to determine if they would be safe to use in humans.

Jump-Starting the Damaged Brain
Injured soldiers returning from the war in Iraq have brought new focus to the terrible toll of brain injury. Thanks to better emergency medicine, patients with severe head trauma are more likely to survive. But they may be left with severe cognitive impairments that inhibit the ability to survey or respond to the outside world.

Nicholas Schiff, a neurologist at Weill Cornell Medical College in New York City, has provided new hope for the families of these largely forgotten patients. He found that deep brain stimulation, a technique used to treat Parkinson’s disease in which electricity is delivered to specific parts of the brain, can help these patients better respond to their environment. (See “Raising Consciousness” and “Jump-Starting the Damaged Brain.”)

Human Genetic Variation
Humans may be more genetically varied than previous thought. Scientists have discovered that large chunks of DNA are frequently copied, deleted, or transposed and may play a role in disease. (See “Deciphering Human Differences.”) In addition, a number of studies using gene arrays that scan the entire genome for SNPs or single nucleotide polymorphisms have identified specific variations linked to common complex genetic diseases, such as diabetes, Crohn’s disease, and heart disease. (See “Genes for Several Common Diseases Found.”)

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Credit: Junying Yu/University of Wisconsin-Madison

Tagged: Biomedicine, DNA, biofuel, neuroscience, genomics

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