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Fibrodysplasia Ossificans Progressiva (FOP) is a catastrophic human genetic disorder of extra-skeletal (heterotopic) bone formation in which affected individuals essentially form a second skeleton within their skeletal muscles and soft connective tissue.
The investigators report the elusive and long awaited causative genetic mutation in FOP. Their study of the genetic linkage of the FOP locus in all examined FOP patients identified in each of the patients the identical nucleotide substitution in ACVR 1, a gene for a type 1 bone morphogenic protein (BMP) receptor. Identification of the mutation that causes FOP is highly significant for patients as it provides a key tool to focus efforts on the development of therapies, none of which currently exist for this debilitating and life threatening disease.
Pending US and CA rights
Pignolo, R.J, et al., Orphanet J Rare Dis. 2011 Dec 1;6:80
Docket # S4145