By Richard Knox
One of the hottest fashions in science these days is Big Data: the idea that revelations can be teased out from great masses of information. Now, some researchers are using the strategy to pry open the black box of Lyme disease.
Four decades after the tick-borne infection first came to light in the vicinity of Lyme, Connecticut, the small world of Lyme-focused researchers isn’t even close to understanding why the disease often seems to plague its victims with disabling immunologic and neurologic problems that can persist for years.
Dr. John Aucott thinks Big Data can change that. “We’re really embarking on a new stage — a new era,” says Aucott, director of the year-old Lyme Disease Clinical Research Center at Johns Hopkins University School of Medicine.
The first step is to show that chronic Lyme disease “is a real illness,” Aucott says. “Many people don’t believe it exists because there’s no objective underpinning.”
That is, there’s no diagnostic test — a biological marker that’s present in people who suffer from chronic Lyme disease symptoms and absent in others. Consequently, the disorder widely called “chronic Lyme disease” is a grab bag of a diagnosis — and probably not one singular disorder.
“Chronic Lyme usually refers to a very heterogeneous population with nonspecific ailments,” Aucott says. “Some may be related to Lyme, others to other tick-borne infections or illnesses we can’t define accurately.”
Aucott and his colleagues have just published some of the first Big Data-derived evidence in the journal mBio. They’ve found a set of activated genes in immune cells of patients newly infected with the Lyme disease bacterium, compared to similar people without Lyme.
“[The study results] may finally start cracking the mystery of why people fail therapy.”
Intriguingly, some of these genes were still activated six months later, even among patients with verified Lyme disease who were successfully treated with antibiotics. Some of these genes overlapped with those activated in autoimmune diseases such as lupus and arthritis — a hint that the Lyme disease bacterium can have a lasting effect on the immune system, a leading hypothesis that has lacked concrete evidence until now.
Dr. Harriet Kotsoris, chief science officer of the Global Lyme Alliance, says the results are provocative. “It may finally start cracking the mystery of why people fail therapy and give us an insight of the genetic makeup of post-treatment Lyme disease syndrome,” she says. “And importantly, it may offer a diagnostic profile.”
One big problem is that patients who believe they have chronic Lyme disease can test negative for antibodies for the infection. That doesn’t mean they weren’t infected, but it does leave them in diagnostic limbo.
To uncover the gene-expression pattern, Aucott and his colleagues had to do 73 million gene sequence “reads” for each of the study subjects — 29 with Lyme disease and 13 controls. That’s the Big Data. They’ve since sampled the immune cells of 175 patients. Continue reading