ACVR1. 

In 2006, scientists announced they had identified ACVR1 as the gene responsible for fibrodysplasia ossificans progressiva (FOP). 

This discovery was more than a scientific milestone for families living with FOP. It was proof that progress was possible—and it set the course for everything that has followed in FOP research.

As we mark the 20th anniversary of the gene discovery, the IFOPA’s new documentary series, Journey to Discovery: A Breakthrough Built on Hope, tells the remarkable story behind the moment. Through voices of scientists, families, and advocates, the 12-part series traces the incredible path to identifying the FOP gene and the extraordinary global collaboration that made it possible. 

A Community of Families Powered by Belief

The search for FOP’s cause is a story of persistence, creativity, and community. 

And most importantly, it is the story of people—people like Amanda, Alice, Sharon, Norbert, Christine, Moira, Megan, Ashley, Carol, Hillary, Marilyn, Whitney, Nick, and many others you will meet in the series—whose families with FOP fuel the heart of progress.

Long before advanced genetic tools were widely available, families refused to accept that nothing could be done. Parents around the world took the search for answers into their own hands. They organized barbecues, garage sales, and grassroots fundraisers to support research. The early funding that powered the search for the FOP gene didn’t come from major institutions—it came from determined mothers, fathers, family members, and friends who believed a breakthrough was possible. 

At the same time, families were connecting across borders in ways that were revolutionary in the early days of the internet. Through early online networks like the IFOPA website and a Yahoo email group, parents began finding one another, sharing medical records, and building a global community. 

Some families even searched the world’s medical literature themselves. One mother in Argentina combed through journals and discovered a multigenerational family living with FOP in South Korea. Finding families like these was critical. Genetic research at the time depended on studying patterns across multiple generations. Each multigenerational family that was found brought scientists one step closer to understanding this disease. 

Scientific Collaboration and Unwavering Determination 

Researchers and doctors across continents joined the efforts. 

Scientists at the University of Pennsylvania and the University of Oxford were both working to identify the genetic cause of FOP. For years, the work unfolded in parallel, each team pursuing the same goal with different tools and perspectives. 

Eventually, collaboration became the key. By sharing expertise and technology—including specialized genetic analysis being used in Oxford – researchers were able to pinpoint the mutation responsible for FOP. 

In the series, you will hear from Fred Kaplan, MD; Michael Zasloff, MD, PhD; Eileen Shore, PhD; Patricia Delai, MD; Mei Qi Xu, Professor Matt Brown, MBBS, MD, FRACP, FAHMS, FAA; Professor Emeritus Jim Triffitt, PhD; Rolf (Ollie) Morhart, MD; and Tae-Joon Cho, MD, PhD and more as they tell the firsthand story of the scientific breakthrough. 

The discovery took more than 15 years and relied on the participation of just a handful of multigenerational families. While modern technology would make identifying the gene an easy feat, at the time, it required patience, ingenuity, and unwavering determination. 

Inspiring the Next Generation of Hope

Journey to Discovery not only tells the scientific story behind the gene discovery, but it also honors the families who made it possible and the researchers and doctors who refused to give up. Their work transformed the field and opened the door to clinical trials and the development of potential treatments now underway. 

Two decades later, the FOP community stands on the shoulders of this breakthrough. 

New scientific advances continue to build on the discovery, bringing the world closer to treatments and, ultimately, a cure. 

Most importantly, the Journey to Discovery series reminds us that progress in rare disease is never the work of one person or lab. It is the result of community—families, physicians, scientists, support systems—working together with courage and hope. 

The discovery of the FOP gene changed everything, but it was only the beginning. Watch Journey to Discovery: A Breakthrough Built on Hope, and see how this moment will continue to inspire the next generation of researchers and hope.

New episodes drop every Tuesday, Thursday, and Saturday starting on March 31, building up to a special online event which will be held on Global FOP Awareness Day on April 23. Follow us at youtube.com/IFOPA so you don't miss a single one! You can also sign up to receive updates when new episodes drop here.