The Discovery.....

The Gene Discovery

On 23^rd April, 2006, after 15 years of painstaking research, the FOP research team at the University of Pennsylvania, School of Medicine and their international collaborators, pinpointed a single gene mutation—one out of 6 billion human genome—which is the culprit of such devastating bone growth in Fibrodysplasia Ossificans Progressiva (FOP).

Senior authors Eileen M.Shore, Ph.D. and Frederick S. Kaplan, MD, both from the Penn Department of Orthopaedic surgery and their international consortium of colleagues report their findings on April 23^rd, 2006 in advance online edition of “Nature Genetics”.

As per Kaplan “This discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton”.

Eileen Shore, a research associate professor of orthopaedic surgery at the University of Pennsylvania, has been studying the disease since 1991~ "I always had been interested in development on a cellular level" she says— "What changes a cell, or what regulates a cell to follow certain cell fate decisions? We usually think about development on an organism level, but it was more a question of what determines the personality of the cell?". 

In 2009, Shore and her team found some of the key biochemical steps that lead soft tissue cells to turn to bone—the results were published in the ''Journal of Clinical Investigation'' in November’09.