Pediatric endocrinologist Janet Crane has a vision. Her work studying bone mineral metabolism disorders leads to the moments when she can apply her findings to the children she treats in her clinic. “I may not have an answer for them now,” she says, “but I know how I’m working to get one.”
Crane works with faculty members Mei Wan, Tao Qiu and others under the mentorship of Xu Cao, director of the Center for Musculoskeletal Research.
“Xu is an amazing basic scientist and bone biologist,” Crane says, “and he’s very interested in taking his discoveries and translating them to humans. I can help take his basic science, prove that it has a translatable implication, and then hopefully take that to the next level and get it into the clinics.”
Cao’s laboratory was designed to foster collaboration across specialties. “He’s built this sort of research mecca, bringing together people with diverse backgrounds,” says Crane. “We’ve had dentists, orthopaedic surgeons, Gyn/Obs, endocrinologists, basic scientists and clinicians. When we discuss an issue, we all come at it from a different angle. That’s how you really get at the critical question.”
Crane received a National Institutes of Health career development award, which allows her to devote 80 percent of her time to research. This lets her focus on analyzing treatments for childhood disorders, such as glucocorticoid-induced osteoporosis and skeletal fragility.
Her specialization brings patients from overseas, including a boy whose parents recently sought help treating his osteogenesis imperfecta. “It’s hard for patients because they’ve seen a lot of people who have said, ‘I don’t have any idea how to help you,’” Crane says. “Then they come to me, and I say, ‘This makes perfect sense! This patient has something really rare.’”
Crane diagnosed her patient as growth-hormone deficient and initiated combination therapy of growth hormones and bisphosphonates. She’ll monitor his progress over the coming months.
A colleague of Crane’s, research fellow Francis Tintani is often asked why he, a pediatric endocrinologist, works in a bone lab. He explains: “The beauty of this lab is that we have a lot of collaborative workers. They have expertise in spine, orthopaedics and endocrinology. There’s so much intensive collaborative work that we can do in terms of clinical and basic science research. Most of our work ends up not sitting on the bench but going to the clinic.”
The reverse is also true. After treating a patient with severe hypocalcemia, Tintani delved deeper to find out why a genetic mutation in the calcium-sensing receptor was causing low calcium, as it typically causes hypercalcemia. Investigation uncovered a de novo mutation, which Tintani is now examining for clinical applications.
For these specialists, research is not about answering theoretical questions but about finding better ways to diagnose and treat the young patients who rely on their care.
The Center for Musculoskeletal Research was established with a major philanthropic gift from an anonymous donor and has received generous support from the Estate of Bradley K. Fox, the Erwin and Stephanie Greenberg Foundation, and the John D. Rockefeller IV Trust.
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