Milwaukee Biz Blog: Story of boy’s life-saving diagnosis speaks to promise of research

Still

As recently as a few months ago, prestigious scientific publications were still questioning whether the potential for personalized medicine – diagnoses and cures based on the sequencing of the human genome – was close to being met.

“Are the huge promises made by (genetic scientists) more rhetoric than reality, or is there still hope for personalized medicine?” asked an Oxford scientist in the December 2015 edition of The Conversation, a British scientific journal.

It’s not a ridiculous query, given the human genome was mapped nearly 16 years ago amid much fanfare. However, as is often the case with scientific discovery, putting that breakthrough to work has been no small trick. Finding ways to harness what scientists know about human DNA, the body’s genetic code that controls everything from eye color to disease susceptibility, has proven to be difficult.

“One in a Billion,” a book about the race to save a Monona boy’s life by finding a needle in the haystack of his DNA, explains how that promise is slowly but surely being met.

It also offers lessons for how society should view other scientific breakthroughs, whether in the life sciences, physics or engineering, that may seem abstract and distant at first but which can pay huge dividends over time.

Written by Kathleen Gallagher and Mark Johnson of the Milwaukee Journal-Sentinel, “One in a Billion” charts the story of Nic Volker as he and his family worked with scientists and doctors at the Children’s Hospital of Wisconsin and the Medical College of Wisconsin.

Nic, who will turn 12 this fall, was wasting away a few years after his birth due to a mysterious condition that displayed some of the signs of Crohn’s disease but which refused to respond to treatments and more than 100 trips to the operating room. Nic flirted with death at points as his young body fought to retain weight, fight infections and to control the pain.

Scientists at MCW and Children’s Hospital recognized they were dealing with something they had never seen before. That began a process of genetic investigation that ultimately led to an answer: Nic was suffering from an extremely rare condition tied to a chromosomal error that caused his body to make the wrong kind of amino acid. As a result, his body produced too little of a protein (dubbed XIAP) needed to stop his immune system from attacking his intestines when food entered.

“… All of the havoc inside Nic’s body stems from the tiniest of errors, a single misplaced chemical base among 3.2 billion pairs,” Gallagher and Johnson wrote.

By mid-2010, the Wisconsin team had devised a bone marrow transplant therapy to drive out the old immune system. Within months, and following many touch-and-go incidents as Nic fought off infections and other threats, the new immune system had established itself. More than five years later, he’s a happy and largely healthy boy, especially given what he’s been through.

“Nic Volker’s sequencing signaled the start of a new era in genetics,” wrote Gallagher and Johnson, who won a Pulitzer Prize for reporting for their continuing coverage of the story. “The ability to read our genes had been translated into medicine, revealing the secret of Nic’s disease when nothing else could.”

That progress continues as the science matures and translates into real-life applications. Experts predict that within 10 years, every child in America will have his or her genome sequenced at birth.

Of course, personalized medicine is not without its continuing hurdles. “One in a Billion” explores how doctors and patients face physical, emotional and economic challenges with blazing technology trails in real time. Sequencing DNA also involves ethical and privacy issues, as well as enormous patience and faith on the part of patients and their families.

Science doesn’t always work at the pace we would like. It was more than 150 years ago that Austrian monk Gregor Mendel showed how pea plants passed physical traits from one generation to the next. It has been more than 60 years since James Watson and Francis Crick discovered DNA’s double helix. Many others have advanced the study of genomics in succeeding decades, including UW-Madison Nobel Prize winner Howard Temin in the 1970s and the teams that mapped the human genome in 2000 after 13 years of work.

Society can decline to support basic research or even portray much of it as trivial. Just don’t try telling that to Nic Volker and his family.

Tom Still is president of the Wisconsin Technology Council.

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