JAX, UConn collaborators awarded $3.2M grant to understand bone genetics and function

Bar Harbor, Maine—Understanding how healthy bones develop, and what goes wrong in osteoporosis and other disorders, is the goal of a new collaborative research project by Jackson Laboratory (JAX) and UConn scientists, funded by a new five-year, $3.2 million grant from the National Institute of Arthritis and Musculoskeletal and Skin Diseases, part of the National Institutes of Health.

The international research community is undertaking a massive project to "knock out" (delete) each gene in the mouse genome in order to systematically examine the function of that gene on the animal’s development and health. While the Knockout Mouse Project (KOMP) encompasses detailed physiological studies of the mice, a comprehensive examination of the skeleton—that vital mammalian scaffolding—was not included in the original list of biometric screenings.

The new project brings together a research team that will append a skeletal evaluation program to the ongoing KOMP. Cheryl Ackert-Bicknell, Ph.D., a Jackson Laboratory bone genetics expert, will work with David Rowe, M.D., professor of reconstructive sciences at the UConn Health Center School of Dentistry, Dong-Guk Shin, Ph.D., professor of computer science at UConn’s bioinformatics division, and other JAX and UConn collaborators.

"It’s important to participate in this once-in-a-lifetime research effort to advance the understanding and treatment of osteoporosis and other genetically complex skeletal disease," Rowe says.

"Osteoporosis hits half of all Americans over 50, regardless of gender," Ackert-Bicknell notes, "and we know that family history is the best predictor of who’s going to develop osteoporosis. Up to 85 percent of the variance in bone density, which is what we measure in the clinic, is attributable to genetic factors."

Rowe’s group, based in Farmington, Conn., will conduct the screening of JAX Mice, representing the mouse strains used in the KOMP, and Shin’s team of bioinformatics specialists in Storrs, Conn., will compile and analyze the data for Ackert-Bicknell and Rowe to mine for clues about how bone diseases progress through a lifetime.

Ackert-Bicknell notes, "Your skeleton changes constantly: every day your bones break down and build back up. What we’re trying to do in our study is to capture the ‘how and why’ this process becomes imbalanced, resulting in osteoporosis."

UConn, one of America's top 25 public research universities, is the only public university in New England with its own Schools of Law, Social Work, Medicine, and Dental Medicine. UConn encompasses 17 schools and colleges, and enrolls 25,000 students representing every state in the nation and more than 90 countries. As an active partner with business, government, and public service sectors, the University of Connecticut enhances the culture, quality of life, and economic vitality of Connecticut, the nation and the world.

The UConn Health Center, located in Farmington, comprises the School of Medicine, School of Dental Medicine, John Dempsey Hospital, UConn Medical Group, UConn Health Partners, and University Dentists. Founded in 1961, the UConn Health Center pursues a mission of providing outstanding health care education in an environment of exemplary patient care, research and public service. With approximately 5,000 employees, UCHC is Connecticut's 16th-largest employer and an important contributor to the local and regional economy.

The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a facility in Sacramento, Calif., and a new genomic medicine institute in Farmington, Conn. It employs a total staff of more than 1,500. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.