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DNA Sequencing Helped A Doctor Save This Teen's Life

DNA Sequencing Helped A Doctor Save This Teen's Life | healthcare technology |

Many recent headlines regarding DNA and genetic science have been complex and hard for the average person to relate to. When the technology saves a young person's life, such as what happened recently at the University of California, San Francisco, the science takes on human qualities, and as a public, we can truly grasp just how important and revolutionary this combination of biology and technology really is.

Dr. James Gern, a professor of pediatrics and medicine at the University of Wisconsin School of Medicine and Public Health in Madison, contacted Joseph DeRisi for help after his patient, a 14-year-old boy, was hospitalized with encephalitis. The prognosis was so severe that the young  man had been hospitalized for six weeks and put into a medically induced coma, according to a press release.

None of the tests and procedures run so far had managed to point out the cause of the boy’s illness. Gern contacted DeRisi, chair of biochemistry and biophysics at UCSF, due to his expertise in new genomic techniques. These techniques involved identifying pathogens that were previously unknown, such as that which caused the young man's illness. According to DeRisi, with this new technology, essentially any pathogen can now be detected with a single test. Once the cause was found, correct treatment could be administered.

The case study can be found published online in the New England Journal of Medicine.

Using SURPI, a tool used in “next generation-sequencing,” a team of researchers quickly and efficiently found the cause of the young man’s illness.

With the help of the technology, the team compared samples of the boy’s DNA to the GenBank databases maintained by the National Center for Biotechnology Information with awe-inspiring speed, doing in 96 minutes what before took at least a day.

Researchers determined that 475 distinct DNA sequences among the three million DNA sequences obtained in the patient’s cereospinal fluid came from a type of bacteria called Leptospira.

The team was even able to pinpoint the exact strain of Leptospira that they boy had been contaminated with: one native to the Caribbean and warmer climates.

Based on these findings, researchers decided to treat the boy using penicillin without having the diagnosis validated with a clinically approved test.

The antibiotics treatment was successful in ridding the boy’s body of infection, and he was discharged and sent home shortly afterward.

Validation by a clinically approved test could have taken upward of five months to confirm, and by this time the boy may not have survived. 

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DNA sequencer raises doctors' hopes for personalized medicine

DNA sequencer raises doctors' hopes for personalized medicine | healthcare technology |

Among the many stents, surgical clamps, pumps and other medical devices that have recently come before the Food and Drug Administration for clearance, none has excited the widespread hopes of physicians and researchers like a machine called the Illumina MiSeqDx.

This compact DNA sequencer has the potential to change the way doctors care for patients by making personalized medicine a reality, experts say.

"It's about time," said Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine.

Physicians who rely on genetic tests to guide their patients' treatment have had to order scans that reveal only small parts of a patient's genome, as if peeking through a keyhole, Snyder said: "Why would you study just a few genes when you can see the whole thing?"

Back in 2000, when the Human Genome Project completed its first draft of the 3 billion base pairs that make up a person's DNA, the effort took a full decade and cost close to $100 million. The Illumina MiSeqDx can pull off the same feat in about a day for less than $5,000 — and the results will be more accurate, two of the nation's top physicians gushed in the New England Journal of Medicine.

That confluence of "faster, cheaper and better" is likely to accelerate the use of genetic information in everyday medical care, Dr. Francis Collins, director of the National Institutes of Health, and Dr. Margaret Hamburg, commissioner of the FDA, wrote last month. DNA sequencing should guide physicians in choosing the best drug to treat a specific patient for a specific disease while risking the fewest side effects.

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