Osteopetrosis Research at the University of Minnesota

The first bone marrow transplant for osteopetrosis was performed at the University of Minnesota. Currently, Paul Orchard, M.D., is leading the research and treatment investigations at the University of Minnesota.  Orchard has an interest in the use of transplantation for osteopetrosis, as well as the biology and genetics of this disorder; his publications relating to osteopetrosis are listed below.  As the primary organizer of the “International Symposium on Osteopetrosis:  Biology and Therapy” at the National Institutes of Health on Oct. 24, 2003, Orchard brought researchers together in the first meeting of its kind to discuss what is currently known regarding this disorder and what remains to be determined regarding the genetics and treatment of osteopetrosis. 

At the University of Minnesota, Orchard has developed a transplant protocol using less aggressive therapy in an attempt to decrease the toxicity associated with transplant.  In addition, he has developed a research protocol to investigate the function of osteoclasts from individuals with osteopetrosis with collaborators Dr. Blair, in Pittsburgh and Dr. Schlesinger, in St. Louis. He has also worked on the genetic basis of osteopetrosis along with Dr. Villa and Dr. Vezzoni in Milan, Italy.

Currently at the University of Minnesota the ability to test for the two most common genes causing osteopetrosis is in development, and should be available for patient testing in early 2005.  This testing will allow evaluation of other family members to determine carrier status, and will be invaluable as a research tool to determine the implications of genetic findings in the prognosis and treatment of these patients.  Dr. Orchard can be contacted at 612-626-4812 or 612-626-2961.  His email is orcha001@umn.edu.