Center for Research in FOP and Related Disorders
The Center for Research in FOP and Related Disorders, under the direction of Frederick S. Kaplan, MD, and Eileen M. Shore, PhD, is the world’s premier research effort in two rare and disabling genetic disorders of heterotopic (extra-skeletal) bone formation: fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH). Together, we have identified the genetic and molecular causes of FOP & POH. Further, we have used that knowledge to spearhead worldwide research efforts to develop therapies that will transform the care — and the lives — of individuals with those disorders.
Highlights
• Over the past 25 years, our research has expanded from little understood rare diseases to testing treatments of these conditions through clinical trials. The work of our lab has led the way in breakthrough discoveries about FOP on a genetic and molecular level.
• After 15 years of work to determine the roots of FOP, our lab announced in 2006 that we discovered its cause: a mutation in a bone morphogenetic protein receptor gene, ACVR1/ALK2. This led to waves of new investigations, now focused on the molecular and cellular factors behind new bone formation, the cells involved in the process, and the new treatments we can develop from that information.
• Our laboratory has dramatically reshaped our fundamental understanding of tissue formation, and how those tissues heal, with the potential to translate into discoveries across a variety of other disorders
