According to the most detailed genetic analysis yet of the strain of cholera bacteria infecting people in Haiti, the pathogen most likely originated in South Asia rather than the Caribbean or Latin America. While scientists still don't know exactly how the bacteria made its way to Haiti, the findings suggest it must have been introduced by human activity. They also lend new urgency to public health efforts; the South Asian strain is both more virulent and more resistant to antibiotic drugs than those currently circulating in Latin America. Since the outbreak began in October, 93,000 people have become sick and more than 2,000 have died.

Eric Schadt and collaborators at Pacific Biosciences, a sequencing company that has developed a novel method for rapidly reading single molecules of DNA, sequenced and analyzed the microbes' DNA in just two days. The ability to quickly analyze pathogens is essential if it is to aid public health responses.

According to a release from Pacific Biosciences, which raised $200 million in an initial public offering last month, researchers sequenced five different cholera strains sent from Harvard Medical School: two samples from the current Haiti outbreak, two samples from South Asia (Bangladeshi isolates from 1971 and 2008), and one sample from Latin America (a 1991 Peruvian isolate). The team then compared this high resolution whole genome sequence information to DNA sequence information available in public databases for 23 diverse strains of V. cholerae. The research was published online this week in the New England Journal of Medicine.

According to a commentary in the NEJM,

The implications of the appearance of this strain are worrisome: as compared with many cholera strains, it is associated with increased virulence, enhanced ability to survive in the environment and in a human host, and increased antibiotic resistance. These factors have substantial epidemiologic ramifications for the entire region and implications for optimal public health approaches to arresting the epidemic's spread.

The "Godfather of heavy metal," "the Prince of Darkness," the man who made himself famous by biting the heads off small animals--Ozzy Osbourne--has had his genome sequenced.

The former frontman for Black Sabbath and reality show star recently became one of only a few hundred people in the world who have had their entire genetic code deciphered and analyzed. Osbourne, 61, wrote about his experience in a column in The Times of London on Sunday. He says he was initially skeptical of the idea--"The only Gene I know anything about is the one in Kiss"--but quickly came around when the originator of the project, identified only as Chris, convinced him the results could help explain how he survived 40 years of intense drug and alcohol abuse and all the ill-advised antics that go along with it. As Osbourne notes in his column;

"Look," said Chris, "you've said it yourself: you're a medical miracle. You went on a drink and-drugs bender for 40 years. You broke your neck on a quad bike. You died twice in a chemically induced coma. You walked away from your tour bus without a scratch after it was hit by a plane. Your immune system was so compromised by your lifestyle, you got a positive HIV test for 24 hours, until they proved it was wrong. Yet here you are, alive and well."

Osbourne's blood sample was collected in early July and sent to Cofactor Genomics, a company in St. Louis, Missouri, that sequences DNA. The DNA sequence results were then sent to Knome, a startup based in Cambridge that analyzes human genomes.

Researchers will present the research in more detail later this week at the TED Med conference in San Diego, where Osbourne and his wife, Sharon, will participate in a roundtable discussion. But Jorge Conde, Knome's chief executive officer and a former TR35 winner, shared some of the results with me this morning.

According to the analysis, Osbourne has about 300,000 novel variants, a figure similar to that of other newly sequenced genomes. (The number of novel variants discovered per genome will fall as more people are sequenced.) Analysis of his mitochondrial DNA, inherited from his mother, revealed that Osbourne shared a common ancestor with Stephen Colbert about 1,000 years ago.

The rocker also learned that, like most people of European descent, he has some some DNA segments inherited from Neandertals. "For fun, we did the same analysis for George Church," says Conde. Church, a pioneer in DNA sequencing, Harvard professor, and one of Knome's cofounders, "had three times as much Neandertal DNA."

Given his infamous history, researchers also analyzed a number of genes involved in drug metabolism and addiction. Knome's director of research, Nathan Pearson, aka Dr. Nathan, embarked to England earlier this month to explain the findings to Osbourne.

Bearing in mind what Dr. Nathan said about those odds being dodgy, here are some other interesting things he told me: I'm 6.13 times more likely than the average person to have alcohol dependency or alcohol cravings (er... yeah); 1.31 times more likely to have a cocaine addiction (this must be bollocks, because anyone who takes coke as much as I did gets hooked); and 2.6 times more likely to have hallucinations while taking cannabis (makes sense, although I was usually loaded on so many different things at the same time, it was hard to know what was doing what).

..."One of the unusual things we found in your genome was a spelling in the regulatory segment of your ADH4 gene, which metabolises alcohol," said Dr Nathan. "It could make you more able to break down alcohol than the average person. Or less able." I used to drink four bottles of cognac a day. I'm not sure I need a Harvard scientist to get to the bottom of that mystery.

In my mind, the findings best demonstrate how easy it is to create a narrative out of a genome, especially one belonging to someone with as colorful a personality as Ozzy's. But Dr. Nathan got it right when he explained his own theory for how the musician has survived thus far.

"Look, Mr. Osbourne, after studying your history, taking your blood, extracting your genes from the white cells, making them readable, sequencing them, analysing and interpreting the data using some of the most advanced technology available in the world today--and of course comparing your DNA against all the current research in the US National Library of Medicine, not to mention the 18th revision of the public human reference genome--I think I can say with a good deal of confidence why you're still alive."

I looked at him. He looked at me.

"Go on, then," I said. "Spit it out."

"Sharon," he replied.

The ability to sequence the entire genomes--the sequence of almost every letter of an individual's DNA--of parents and their children has for the first time allowed scientists to directly measure how fast our species is mutating. Preliminary studies are coming up with some surprising findings, including more variation than initially thought. A more accurate measure of the number of spontaneous genetic changes passed down from generation to generation will allow scientists to better estimate the timing of key events in our evolutionary history, as well as to evaluate whether some families are more likely to have children suffering from developmental disorders.

These mutations, thought to result from mistakes in DNA replication during the creation of sperm or eggs, are the basis for evolution. Some changes are benign, some are harmful--spontaneous mutations have been linked to autism and other developmental disorders--and some confer special advantages on their bearer. "Mutation is a good thing," says Don Conrad, a researcher at the Wellcome Trust Sanger Institute, in the United Kingdom. "We need to be able to respond to changes in our environment."

Last March, Leroy Hood and collaborators at the Institute for Systems Biology in Seattle, sequenced the complete genomes of a nuclear family of four, the first published example of a family having their genomes sequenced. By comparing the sequence of parents and offspring, researchers could calculate the rate of spontaneous mutations arising in the human genome from one generation to the next. The rate equates to about 70 mutations per child, lower than previous estimates.

Don Conrad has now followed up those estimates with his own analysis of family genomes, comparing mutation rates in two different nuclear families who were sequenced as part of the 1000 genomes project, an international collaboration to assess new sequencing technologies and examine genetic variability across different populations. Conrad's study confirmed Hood's figure, but it was also the first to separate out mutation rates from whole genome data based on gender. Previous indirect estimates suggest that the mutation rate is three to six times higher in men than women, a phenomena thought to be explained by the fact that sperm undergo many more cell divisions during development than do eggs. In preliminary findings presented last week at the Personal Genomes conference in Cold Spring Harbor, New York, he found that the father in a family from Utah had a mutation rate 11 times higher than the mother, higher than any previously reported figures. In the second family, from Africa, the maternal mutation rate was higher than the paternal one, which is contrary to the prevailing theory.

By simulating how mutation rates would vary had the parents in the two families switched partners, Conrad calculated that there could be as much as a tenfold difference in rates among individuals. He cautions that the work is based on data from just two families and needs to be replicated in larger samples. "I'll be exited to see what people come up with over the next six months, as they analyze sequences of more families," he says. One drawback in the study is that scientists don't know what age the parents were when they had their children; older parents tend to have more mutations in their gametes. In addition, the sequencing used DNA derived from cells from each individual, rather than direct DNA samples, though Conrad says he controlled for any errors this might have introduced.

It's not yet clear what determines an individual's mutation rates, though genetics likely play a major role. A mutation in a DNA repair enzyme, for example, could increase error rates in the replication of a genome. Environmental factors are also a possibility, however, Conrad says that no one has yet identified specific culprits. X-rays and toxic chemicals affect DNA in so-called somatic cells, or adult tissue, rather than the germline cells that go on to form eggs and sperm. It's also not yet clear what the consequences of a highly variable mutation rate would be, though it's possible that families with higher rates would be more likely to have children with sporadic disease.