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IDENTIFICAL ARG206HIS MUTATIONS IN THE GS DOMAIN OF THE ACTIVIN A TYPE I RECEPTOR (ACVR1) GENE CAUSE INHERITED AND SPORADIC FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP)

Description:
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.

IP Status:
Pending US and CA rights

References:
Pignolo, R.J, et al., Orphanet J Rare Dis. 2011 Dec 1;6:80


Patent Information:
For Information, Contact:
Robert Schenkel
Director, Special Business Projects
University of Pennsylvania
215-898-9385
robh@upenn.edu
Inventors:
Frederick Kaplan
Eileen Shore
Keywords: