New Biobank Generates Excitement for Research

“The IFOPA’s FOP Biobank is a wonderful resource and asset for the FOP research community”

The IFOPA's FOP Biobank launched with a great deal of enthusiasm at the 2018 Family Gathering in Baltimore, and it is an important step in supporting FOP research.

The FOP Biobank is a centralized collection of biosamples such as blood, urine, baby teeth and saliva donated by people with FOP, their families, and anyone who wants to donate. The unique ability to share biosamples and anonymous health information with qualified scientists and labs globally maximizes the impact of each donation to advance FOP research.

“When researchers collect biospecimens under their own research protocol, the sample often must remain at their institution or company and cannot be shared. Ultimately, this hinders research,” said IFOPA Research Development and Partnerships Director Adam Sherman. “The IFOPA Biobank samples can be distributed to any investigator that is conducting qualified research in FOP. Often one donation can be split among many FOP researchers across the world.”

“The IFOPA’s FOP Biobank is a wonderful resource and asset for the FOP research community,” said Eileen Shore, Ph.D., Center for Research in FOP and Related Disorders at the University of Pennsylvania. “For a rare disease such as FOP, every sample from every patient is precious and valuable. The Biobank will ensure that these samples are used in the best ways possible, from increasing our basic knowledge about FOP and why it happens to inform potential treatments and clinical trials.”

In order for researchers to access samples from the Biobank, they will need to submit a research application for review. This will ensure our limited samples are only made available to the most qualified and impactful research.

“We expect researchers will want to examine DNA for genetic differences related to the severity of FOP. Blood and urine samples will primarily be used to search for markers that may predict the onset of a flare, predict whether a flare will make new bone, or tell us whether someone is responding to medication. Cell lines can also be generated to test new medicines,” said Dan Perrien, Ph.D., of the Vanderbilt University Center for Bone Biology (VCBB) where the Biobank is housed.

The Biobank got off to a fantastic start at the last Family Gathering where samples of blood, saliva and urine were collected from event attendees who expressed interest in participating. However, even with this great kick-off event, there is a large need for more donations to make the program as successful as possible.

The FOP Biobank currently needs many more blood donations from new FOP donors, as well as repeat donations of blood and/or urine from FOP’ers who have already volunteered. The Biobank currently has less than 20 blood samples, with only four of those from people living with FOP. More blood donations from FOP’ers would greatly help researchers.

Anyone who wants to donate to the Biobank is strongly encouraged to do so. The process is straightforward and can be done from home at no cost to the volunteer. Participation in the FOP Biobank is only open to people in the United States currently, but eventually, the IFOPA wants to have the infrastructure in place to secure and transport donations from anywhere in the world. If you live in the U.S., you can start the process here.

There will also be opportunities to donate to the Biobank at the 2019 Family Gathering in Orlando. The 2018 event had more participants than anticipated, so hopes are high for building on the foundation now in place.

“I was pleasantly surprised by the overwhelming enthusiasm of FOP’ers and relatives to volunteer. We extended donation times as much as possible, but were still forced to turn away volunteers,” Perrien said. “Many volunteers told me they were excited to be an important part of FOP research. This year, we plan to bring more staff to the Family Gathering so we can take full advantage of the excitement.”

Ed Hsiao, M.D., Ph.D., University of California-San Francisco (UCSF) shared, “Our goal as researchers is to provide the best treatment, and ideally a cure, to people affected by FOP. Two key contributors to this process are having access to primary human data (i.e. the FOP Registry, natural history studies, etc.) and human samples (i.e. the FOP Biobank) to provide the foundation to drive these efforts. The open availability of robust human samples and linked information is absolutely critical for making the research process move as quickly as possible and in the most productive directions.”

The IFOPA is grateful to Drs. Ed Hsiao, UCSF; Dan Perrien, Vanderbilt University; Bob Pignolo, Mayo Clinic; and Eileen Shore, the University of Pennsylvania for serving as Biobank Advisors for the IFOPA. We also gratefully acknowledge the Vanderbilt University Center for Bone Biology for housing the Biobank. Finally, we are grateful for the support of our generous Biobank sponsor, Blueprint Medicines.

To learn more about the IFOPA Biobank and how to donate, visit




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