( s. Human genetic diseases of the s...)Researchers track down cause of a disfiguring bone disorder

"Human genetic diseases of the skeleton such as sclerosteosis and Van Buchem disease provide a starting point for understanding the modulation of anabolic bone formation," noted team members Michaela Kneissel and Hansjoerg Keller of Novartis, "and ultimately have the potential to identify key molecular components that can be used as new therapeutic agents to treat individuals suffering from bone loss disorders" such as osteoporosis. "Therefore the findings stemming from this collaboration, along with the mouse models created, have clinical relevance in addition to addressing a fundamental problem in genomics."

Working with Loots on the study were Jessie Chang and Nicole Collette of Lawrence Livermore, Dmitriy Ovcharenko and Ingrid Plajzer-Frick of Lawrence Berkeley, Eddy Rubin of Lawrence Berkeley and the DOE Joint Genome Institute, and Kneissel, Keller and Myma Baptist of Novartis. Funding for the research was provided by the U.S. Department of Energy's Office of Science and by the National Institutes of Health.

Founded in 1952, Lawrence Livermore National Laboratory has a mission to ensure national security and to apply science and technology to the important issues of our time. Lawrence Livermore National Laboratory is managed by the University of California for the U.S. Department of Energy's National Nuclear Security Administration.