Osteopetrosis

What Is Happening at the University of Minnesota Regarding Research on Osteopetrosis?

The first bone marrow transplant for osteopetrosis was performed at the University of Minnesota. Currently Dr. Paul Orchard is leading the research and treatment investigations at the University of Minnesota. Dr. 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 October 24, 2003, Dr. Orchard brought researchers together in the first meeting of its kind to discuss what is currently known regarding this disorder and what has yet to be done to improve overall chances of long term survival.

At the University of Minnesota, Dr. Orchard and his team developed transplant protocols using intense and less toxic therapy to improve overall outcomes.  In addition, he developed a research protocol to investigate the function of osteoclasts from individuals with osteopetrosis with collaborators in Pittsburgh and in St. Louis.  Dr. Orchard is also a world expert in the genetics of this disorder.

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 2007. 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 by phone at 612-626-4812 or 612-626-2961, or by e-mail at orcha001@umn.edu.

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References Regarding Osteopetrosis