The follwing is a reprint of an article the July 3 2006 issue of Newsweek
Dr. Fred Kaplan can't stop thinking about his kids. Daytime, nighttime,
weekends. Their pictures cover his office walls; their smiles line the
hallway of his lab at the University of Pennsylvania School of Medicine in
Philadelphia. And their letters ("Your the best Dr. in the howl wild world")
hang next to his desk, displayed more proudly than any medical degree or
award. Kaplan's kids are his patients, children with a rare and immobilizing
disease called fibrodysplasia ossificans progressiva. The first time he saw
a child with FOP, says Kaplan, "it had the emotional impact of an atom
Philadelphia, PA – Researchers at the University of Pennsylvania School of Medicine have located the "skeleton key," a gene that, when damaged, causes the body's skeletal muscles and soft connective tissue to undergo a metamorphosis into bone, progressively locking joints in place and rendering movement impossible. Identifying the gene that causes fibrodysplasia ossificans progressiva (FOP), one of the rarest and most disabling genetic conditions known to humans and a condition that imprisons its childhood victims in a "second skeleton," has been the focus at Penn's Center for Research in FOP and Related Disorders for the past 15 years. This important discovery is relevant, not only for patients with FOP, but also for those with more common skeletal conditions.
To Our Donors:
Dramatic research breakthroughs do not occur often, but when they do, they shake the foundations of the scientific and medical world. One such breakthrough occurred in 2006 with the discovery of the FOP gene. That discovery not only changed the course of research in a rare disease, but sprung-open the gates of research in many related diseases that affect millions.
Dr. Thomas Einhorn, the Chairman of Orthopaedic Surgery at Boston University wrote:
"The contribution of this discovery into the understanding of FOP and the ripple effects will have an understanding of bone biology in general are enormous."
M.K. Timmerman, a scientist from the Netherlands, said: "The discovery of the FOP gene has the potential to tell us something fascinating about the nature of bone formation. The identification of the FOP mutation has implications for the treatment not only for patients with FOP, but also for patients with osteoporosis, or others who might benefit from an increase in bone formation."
Patrick Warnke of the University of Kiel in Germany stated in an editorial in the journal Science: "The newly discovered FOP gene mutation not only has potential therapeutic implications for this currently untreatable disorder, but may also reveal novel avenues of harnessing the tragic talent of FOP patients to produce prolific amounts of bone. We are always in need of hard tissue. The FOP gene defect could show us the way to induce bone growth."
The IFOPA would like to congratulate Dr. Frederick Kaplan, Isaac & Rose Nassau Professor of Orthopaedic Molecular Medicine and Chief, Division of Metabolic Bone Diseases and Molecular Orthopaedics, for being elected a new member of the Institute of Medicine (IOM) of the National Academy of Sciences. Dr. Kaplan is one of 65 new members and five foreign associates elected, as announced on Monday, October 12.
As stated in the National Academy of Sciences news release, “Election to the IOM is considered one of the highest honors in the fields of health and medicine and recognizes individuals who have demonstrated outstanding professional achievement and commitment to service… New members are elected by current active members through a highly selective process that recognizes individuals who have made major contributions to the advancement of the medical sciences, health care, and public health.”
Please join us in applauding Dr. Kaplan on this esteemed accomplishment.
What is FOP?
FOP in an abbreviation for Fibrodysplasia Ossificans Progressiva ( fī'brō-dĭs-plā'zhə ŏ-sĭf'ĭ-kānz' prō'grĭ-sī'və) previously known as Myosis Ossificans Progressiva.
FOP is a rare and distressing medical condition where bone forms in muscles and other soft tissues of the body.
Whenever extra bone is formed across the joints it restricts movement. It is a progressive disease and there is no cure. It does not effect a persons intelligence.
FOP affects 1 in 2 million people worldwide. It has no ethnic or religious pattern.
There has been 700 confirmed cases across the globe from an estimated 2500.
There are 285 known cases in the United States.