The FOP gene discovery showed that patients with
classic features of FOP (malformed great toes and progressive
heterotopic ossification) all have the same gene mutation.
While our original FOP population was assembled from around
the world, patients from a few key geographic regions were
notably missing. The recent FOP mutational data from patients
in China, Japan, and Vietnam now provides additional strong
support that all classically-affected FOP patients worldwide
carry the same genetic change in the ACVR1 gene.
Dr. Kaplan meets with a group of young Japanese FOP patients at a
meeting in Osaka, Japan
This remarkable finding confirms that the FOP mutation is one of the
most specific point mutations in the human genome, a finding with
important therapeutic implications. An FOP patient from Beijing or
Yokohama is no different than an FOP patient from
Baltimore or Chattanooga.
FOP exhibits no ethnic, racial, or geographic boundaries clinically
or at the molecular level. Thus, definitive treatments, when
Baltimore or Chattanooga.
FOP exhibits no ethnic, racial, or geographic boundaries clinically
or at the molecular level. Thus, definitive treatments, when
available, should be applicable to patients worldwide.