Research

Introduction - In Search of a Cure
FOP research is detective work. The key objective is to find the right path through a genetic labyrinth to identify the damaged gene that causes overproduction of a powerful bone-producing protein in people with FOP.

Researching this rare disorder may one day also benefit people who suffer from more common bone-related conditions, such as osteoporosis, arthritis, post-amputation treatment, certain spinal cord injuries and some heart valve disorders.

Like other genetic conditions, FOP research involves finding and fixing a defective genetic switch. At the same time, however, FOP is also unique. There is no other condition that turns one type of tissue into another the way FOP turns muscle into bone. Despite this, the research team has made significant inroads in mapping the elusive FOP gene, and this brings great hope to the FOP community.

There are several difficulties, unfortunately, which hinder research and delay the development of effective treatments:

     • Rarity of multigenerational families
     • Scarcity of tissue samples
     • Lack of awareness
     • Limited funding
     • Lack of a genetic animal model

Finding the source of the puzzling FOP gene is possible, but this disease process is relentless. Research discoveries and treatments are needed quickly before extra bone permanently immobilizes more people with FOP. The IFOPA is dedicated to finding a cure.

Opening Doors for More Common Conditions
"The answers for FOP are relevant to every condition that affects the formation of bone," says Frederick S. Kaplan, M.D, Isaac and Rose
Nassau Professor of Molecular Orthopaedic Medicine at The University of Pennsylvania. Genetic discoveries in the FOP Laboratory could open doors for more common conditions such as arthritis, osteoporosis, spinal cord injuries, and degeneration of heart valves.
Research Needs

Umbilical Cord
The FOP Research Team at the University of Pennsylvania is interested in speaking with any of FOP parents who have had the child's umbilical cord blood collected at birth. The cord blood is rich in stem cells that they normally cannot get without performing either an invasive or a high risk procedure. If you can help, please call Rita at 215-746-0406.

Tissue/Marrow
With recent advances in stem cell biology and tissue engineering, the FOP research lab at the University of Pennsylvania along with their collaborators are trying to establish stem cell lines for research. What is a stem cell? Stem cells are individual cells that have the ability to self-renew as well as make cells that will turn into several different cell types including bone, muscle, and fat. In establishing these cell lines, the research will gain incite into the behavior of these cells compared to cells from individuals who do not have FOP as well as have a self-repopulating source of cell for research.

Stem cells are found in many tissues in the body including muscle, bone marrow and teeth. The researchers at PENN are constantly interested in obtaining any of these tissues. All tissue needs to be received by the University within 24 hours of harvest. We have established a transport network that can have samples picked up and delivered the same day with very little notice. If you would like additional information or would like to donate tissue please contact Rita at 215-746-0406 or in an emergency or during weekends you can page Dr. David Glaser at 215-312-8953.

Please read about Andy Sando's bone marrow contribution.

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 In This Section:
  Annual Report
  Treatment Guidelines
  Tissue/Marrow Needs
  Medical Articles
  The Skeleton of Harry Eastlack
  Andy Sando's Contribution
  Multigenerational Families
  Glossary of Terms

 Highlights:
  Introduction
  Opening Doors for More Common     Conditions
  Research Need

 For more information:
  Browse Resource Center
  Newsletters
  Overcoming Obstacles

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