conversations.from: human
conversations.value: Provide a description for a book titled One in a Billion about with the genre: Children's Books, Literature & Fiction.
conversations.from: assistant
conversations.value: This story portrays a discovery we all must make, that being one of many doesn't diminish who we are. Each of us is unique in all the world.
conversations.from: human
conversations.value: What could be a title for a book about with the genre: Literature & Fiction, Genre Fiction?
conversations.from: assistant
conversations.value: A title for this book could be 'One in a Billion'
conversations.from: human
conversations.value: Provide the first five paragraphs for this book.
conversations.from: assistant
conversations.value: One in a Billion
  The scientists have made a case for XIAP, but thus far it is largely circumstantial. The paper in the medical journal only linked the XIAP gene as a whole to inflammatory bowel disease; it did not examine Nic's specific variation of that gene. Before doctors take the next step and look for possible treatments, they need to be certain they have found the right error in the script, the precise flaw that is triggering Nic's disease. They need to understand how the changes in one base, one amino acid, one protein work inside the boy's body. They need to understand, too, why the medical literature contains no other reports of this illness. They are seeking the logic behind the symptoms, why they happen, and why they happen to Nic and no one else.
  Worthey searches for the boy's error in other human genomes. If the error shows up, but not the disease, it will signal that the scientists need to keep searching, that they have not found the origin of Nic's illness. The culprit must lie elsewhere in his script.
  By 2009, there are only a dozen or so published human genomes, a minuscule cross section of the 7 billion people on earth. Checking the published genomes, Worthey and Dimmock find no one else with Nic's mutation. But his mutation's absence from a dozen genomes is hardly sufficient to make it rare.
  So Worthey widens the genetic net, privately approaching scientists at a conference at Cold Spring Harbor Laboratory, the nonprofit research institute where James Watson still works. The other scientists have access to unpublished genomes, information that is closely guarded. These genomes are the basis for important, as-yet-unpublished studies; the scientists do not want to give away what they're working on before they go to print. But Worthey tells them about the sick child with the mysterious disease; she asks only that the scientists check the XIAP sequence on any genomes they can examine. She gives them precise coordinates for the mutation's position and appeals to an impulse she believes all scientists share. "Everybody gets into science because they want to help people," she says. "They want to do things that will help humanity."
  One other factor works in her favor as she talks with the other scientists. Most are in their thirties or forties and have small children of their own. They can put themselves in the shoes of the parents desperate to learn what is making their child so sick. In their hearts, Worthey says, most scientists believe that genomic data needs to be shared. The scientists she approaches deliver.
conversations.from: human
conversations.value: Provide five more paragraphs.
conversations.from: assistant
conversations.value: As with many human milestones—the four-minute mile, the ascent of Mount Everest, the discovery of DNA's structure—multiple groups had the goal in their sights and were in hot pursuit. Doctors had used exome sequencing to make a diagnosis once prior to Nic Volker, though their work was not published until after the Wisconsin scientists had begun analyzing Nic's script. The case, involving a Turkish baby, was reported by researchers at Yale University in Proceedings of the National Academy of Sciences in November 2009—about the time Jacob's team was pinning down Nic's disease to that single error on a single gene. The baby had been suspected of having a disease called Bartter syndrome, a rare condition that can cause kidney failure. Turkish doctors had contacted Richard Lifton, the chairman of the Department of Genetics at Yale, because of his expertise in genetic diseases involving the kidneys. Lifton had been closely involved in the development of exome sequencing, and he saw the Turkish case as an opportunity to apply the new method.
  Sequencing and analysis by Lifton's lab revealed that the Turkish doctors' diagnosis was incorrect; the baby actually had congenital chloride diarrhea, a serious but treatable disorder that can threaten an infant's ability to thrive. Unless adequately treated, most babies with the rare disorder die within a few months of birth. Fortunately for the family in Turkey, sequencing identified a disease the doctors had missed, allowing them to save the baby. According to Lifton, the child has survived. "We were convinced at that point that we ought to be using this technology as a discovery tool," Lifton said.
  Despite Lifton's precedent, it was Nic Volker, not the Turkish baby, who would become the medical milestone. There are a number of reasons, including a seemingly small technical difference between the two cases. Yale treated work on the Turkish child as research, requiring that the project receive approval from the university's institutional review board, the group that governs research involving human subjects. That meant the sequencing was first and foremost an experiment, a chance, as Lifton put it, to take the technology for a test drive. In contrast, even though Jacob had been forced to tread delicately, presenting the work as both medicine and research, Nic Volker's treatment was always about saving the child's life.
  Although other hospitals and institutions had hoped to use sequencing technology in the treatment of a patient, none had ever turned to it in such a life-threatening emergency. The publicity surrounding Nic's treatment further cemented his position as the face of a new kind of medicine.
  Perhaps no one put it better than Eric Topol, the director of the Scripps Translational Science Institute in La Jolla, California. "Nic Volker," he said, "was a roar heard around the world."
conversations.from: human
conversations.value: Provide the last five paragraphs.
conversations.from: assistant
conversations.value: Maxam, Allan, and Walter Gilbert. "A New Method for Sequencing DNA." Proceedings of the National Academy of Sciences 74: 560–4.
  Sanger, F., et al. "DNA Sequencing with Chain-terminating Inhibitors." Proceedings of the National Academy of Sciences 74: 5463–7.
  Mendel, Gregor. "Experiments in Plant Hybridization." MendelWeb, February 8 and March 8, 1865, www.mendelweb.org/Mendel.html.
  Credit for photo on page viii: Copyright © 2010 Milwaukee Journal Sentinel; Gary Porter, photographer; reprinted with permission
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