Researchers like Nancy Hadley-Miller, MD, noticed long ago that scoliosis runs in families. A strong family history could sometimes even predict the severity of a case.
"You get two parents with scoliosis, usually their child is going to have a more severe case," Dr. Hadley-Miller says. "But that's just anecdotal. There's a big difference between anecdote and science."
The difference between anecdote and science
And Dr. Hadley-Miller wasn't satisfied with anecdote. As far back as 1988, she began looking closer at the families she treated: "This guy has a 60-degree curve, his sisters have 20, 25-degree curves. Why?"
It's the question to which Dr. Hadley-Miller has devoted her career and it carries huge implications, especially in pediatrics, where a 10-degree curve in a 10-year old might become a 50-degree curve later on. Or it might not.
An accurate way to predict the severity of scoliosis could help doctors decide not only whether to treat, but how to treat and when. Dr. Hadley-Miller's research lab at Children's Hospital Colorado, in partnership with the University of Colorado School of Medicine, is one of just two National Institutes of Health-funded scoliosis labs in the nation — the other one, at Washington University in St. Louis, is a close collaborator.
Dr. Hadley-Miller's latest discovery is a damaging variant in the HSPG2 gene.
While not exclusive to people with scoliosis, it bears out in scoliosis patients enough to be significant. It's not a cure, but it is a clue.
The research journey continues
"If there were one gene for scoliosis, I probably would have found it a long time ago," Dr. Hadley-Miller says. "This situation is a lot more complex than we first thought."
Rather, Dr. Hadley-Miller and a cast of international collaborators as far flung as France and Japan are working to isolate a panel of several genes, which, considered together, might have some predictive merit. But there's a long road ahead.
"I thought we'd have this figured out by 2000," she jokes. "You really have to enjoy the process."
Learn more about orthopedics research at Children's Colorado.