Sally Camper calls herself an accidental geneticist. But it’s no accident that her discoveries have helped solve many mysteries deep within human DNA.
Working with scientists around the world, she’s helped find the genetic causes of several rare birth defects.
Including ones like the disease that affects her own son.
In fact, she says, being the parent of someone with a rare disease has given her a new perspective on just how important genetic research really is.
After all, her son Erik didn’t get a firm diagnosis for what was causing his painful hips, curving spine and short stature for years. And he still hasn’t found out the exact genetic problem causing his condition.
But helping more families find out exactly what their child has, and what might be done for them, drives Camper and her colleagues at the University of Michigan Medical School and its Department of Human Genetics. She recently stepped down as chair of that department.
Her colleagues include Erik’s father, Bob Lyons, who runs the central gene-decoding facility for all U-M scientists.
They’re also driven by the possibility that their work could lead to better treatments for future patients with rare genetic diseases – and perhaps even a way to reverse the effects of flawed genes.
Accidentally on purpose
Camper trained as a chemist, and only started studying DNA when jobs for college chemistry graduates just didn’t excite her.
That nearly accidental decision turned out to be a well-timed one. She jumped into studying genes in the early 1980s, just at the start of an incredible revolution in genetic research.
She vividly recalls being a young graduate student at a scientific conference where a prominent scientist described a new way to spell out, or sequence, what made up a stretch of DNA.
“You could hear a pin drop in the huge lecture hall,” she says. “At the time I didn’t quite grasp the significance, but I felt the excitement.”
That tool, and the ones that came after it, made it possible for Camper and others to become “gene hunters,” and find the exact DNA defects that cause or contribute to many diseases.
Her painstaking work focused on the genetic flaws involved in birth defects, specifically ones that caused deafness, epilepsy and growth problems.
She was already interested in DNA changes that affected the pituitary gland and human growth when her son’s own growth slowed. He began to suffer painful, tiring joint-related symptoms in elementary school.
It turned out he had a form of skeletal dysplasia, also known as multiple epiphyseal dysplasia, that affected his bones’ ability to grow normally.
And that set her on a course of using her genetic know-how to study this condition.
“That’s the best part of academic research,” she says. “If you can find money to support your work, you can choose the biomedical research problem that is most interesting to you, and that may change over the course of your career.”
Skeletal dysplasia discoveries
There are more than 450 types of skeletal dysplasia, and about one in every 5,000 babies is born with one of them. But the genetic changes responsible for only about 250 of the subtypes have been discovered.
In 2013, Camper and her former graduate student Krista Geister, and colleagues announced they’d found another genetic mutation that produced a form of skeletal dysplasia in mice. They nicknamed it “peewee”.
What’s more, they showed that experimental drugs could actually reverse the problem, and lead to near-normal growth.
Last fall, Camper, Geister and their colleagues published the first evidence that a form of skeletal dysplasia arises when a “jumping gene” inserts a bit of rogue DNA into a normal gene.
In this case, the gene helps cells divide during the normal growth process. But when it goes awry, bone cells can’t divide to cause bones to lengthen properly.
This discovery, also made in mice, may pave the way for more findings about the role that jumping genes may play in birth defects. The team also successfully tested a form of gene therapy on the mice, and partly corrected their growth issues.
It could be years before humans with SD get to try either of these options. But in the meantime, the discoveries add two more to the list of known SD causes.
All in the family
While his skeletal issues have made him shorter and more prone to pain than other young men, Erik has built a career as a supervisor, and instructor, of paramedics in East Lansing, Michigan. That’s near where his parents met as graduate students at Michigan State University.
Together with his sister Liz, the family has traveled widely and tried different activities that don’t tax his joints too much – including scuba diving. But he also didn’t let his condition get in the way of climbing Mt. Kilimanjaro in Africa with friends.
His mother’s scientific knowledge about the condition has come in handy over the years, he says, but her support as a mom has come first.
Erik hopes scientists like his mom will come up with some way of treating SD that is better than his current choices of taking painkillers and avoiding certain activities – and less invasive than the possible hip replacement that may be in his future.
Such an option – perhaps through gene therapy or new drugs — “would bring a lot of serenity to me,” he says.
Until then, he notes, people with rare diseases like his face the prospect of educating doctors about their diagnosis, and navigating a medical system that sometimes doesn’t know what to do with them.
Most of all, he says, people should “not make unfounded assumptions about a person with a rare genetic condition’s abilities or inabilities.”
Seeing the future
Even as her own son doesn’t yet know the precise cause of his condition, Camper says she is hopeful for the future of SD diagnosis.
“I can envision that we will be able to identify most if not all of the currently unknown causes of the disorder within the near future, and probably test for them at a manageable cost on a specially designed chip,” she says. “It may even become part of a newborn screening program.”
The next 10 years are sure to bring incredible advances in understanding the genetic basis for disease, she adds.
And that will be important for families like hers.
“Getting these answers provides a foundation for developing treatments, but it can take a very long time to from a known cause to a treatment,” she explains. “However, for many parents, knowing the genetic cause of a problem can put an end to a lengthy diagnostic odyssey for their child. Being certain about the cause can help predict the range of outcomes that are likely, and it can predict the risk for future pregnancies. This kind of knowledge can be very powerful.”
Take the next step:
- Visit Dr. Camper’s lab website to learn more about her work
- Learn more about the form of skeletal dysplasia that Erik Lyons has from the National Institutes of Health
- Check out the U-M DNA Sequencing Core, run by Bob Lyons (Erik’s dad), which is used by scientists across U-M to decode genetic riddles
- Find out about Rare Disease Day, an international celebration designed to raise awareness of rare diseases
Since graduating its first class of six students in 1851, the U-M Medical School has been a leader in preparing the physicians and scientists of the future, conducting pathbreaking research and working with the U-M Hospitals & Health Centers to deliver outstanding care of all kinds. With top-tier national and international rankings for education & research funding, more than 3,000 faculty and nearly 1,900 students and advanced trainees, the school is truly one of the nation’s leaders and best.