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Medical Mystery Unraveled by New Genomic Sequencing Technology

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Medical Mystery Unraveled by New Genomic Sequencing Technology

Dr. James Gern, who collaborated with UC-San Francisco researchers and physiciansMadison, Wisconsin - The mystery of a 14-year-old boy's sudden illness was solved by a unique collaboration between a UW Health physician and researchers at the University of California at San Francisco (UCSF).

The case is the subject of a New England Journal of Medicine case study published yesterday.

The mystery was solved by next generation sequencing (NGS) developed at UCSF. The DNA sequencing method is a rapid, single test for infectious diseases and can detect any pathogen.

Joshua Osborn of Cottage Grove, Wisconsin started getting headaches, fever and other symptoms after an overseas vacation. In April, 2013, his illness eventually escalated to pressure in his brain and uncontrollable seizures. He was hospitalized three times in four months.

Pediatric Intensive Care Unit staff decided to put him in an induced coma to control the seizures. Joshua’s physician, UW Health immunologist Dr. Jim Gern, did an extensive workup and Joshua even underwent a brain biopsy to search for a virus or organism that would cause his symptoms. Testing did not reveal anything to explain Joshua’s illness.

Josh Osborne (far left), with his family“There were a lot of tense moments,” said Julie Osborn, Josh’s mother. “The doctors did everything they could to figure out what was going on, but it was a mystery. It was very scary to watch Josh deteriorate before our eyes.”

“We had a young man in quite serious condition with an unknown infection,” said Dr. Gern. “I have been working with UCSF researcher Joe DeRisi on discovering possible viral causes of asthma. I went to Joe and he recommended that I contact Charles Chiu, who was researching the next generation of genomic sequencing that looks for viruses, bacteria and fungi that can’t be detected by traditional testing.”

Gern sent samples to Chiu and UCSF neurologist Dr. Michael Wilson and consulted with them on Joshua’s case. Previous types of DNA analysis would have taken 24 hours or more to complete. But Chiu’s team was able to perform the sequencing in just 96 minutes.

“Chiu’s new method of genomic sequencing uncovered a bacterial infection called leptospirosis as the likely culprit,” said Gern.

Leptospira is a pathogen native to the Caribbean and warmer climates. Leptospirosis causes a wide range of symptoms. Sometimes, it’s confused with other diseases.

“Julie and I were excited when the doctors nailed down a diagnosis that had a name and that it was something that could be treated,” said Clark Osborn, Josh’s dad.

Gern and the doctors at UCSF decided to treat Josh with high doses of penicillin. Within a couple of days, Josh was breathing on his own. In 32 days, he was discharged from the hospital.

“We were able to come up with an effective treatment plan because of the unique genomic testing developed at UCSF,” said Gern. “It made a tremendous difference for this patient.”

“It’s amazing to think that Josh’s illness may be a significant reason that the technology could be brought to other hospitals,” said Clark Osborn. “As hard as it was, some day we can say it was worth it. Look at all the people who may benefit from it.”

Josh not only resumed home school after his long hospitalization, but he has taken up a number of activities again like trampoline, scooter riding, baseball and swimming.

Date Published: 06/05/2014