Rare Disease Report

How to Succeed As a Rare Disease Organization

OCTOBER 30, 2014
James Radke

Gordon and Gordon’s editorial “The Progeria Research Foundation: Its Remarkable Journey From Obscurity to Treatment” currently available at Expert Opinion of Orphan Drugs is a must read for the rare disease community. And the key takeaway message from their editorial is quite simple...Working together is exponentially better than working alone.
That phrase sums up how the Progeria Research Foundation (PRF) has advanced from a small family-based, non-profit organization focused on a poorly understood disease, to a group that is improving lives of progeria families, changing the way we look at the science of aging & cardiovascular disease, exponentially increasing the number of researchers publishing about Progeria, and bringing a community together.
PRF was formed in 1999 by the parents, friends, and family of Sam Berns, a boy  who was diagnosed with progeria just before his second birthday.  In 1999, there were almost no published articles about Progeria. It was not known what the cause of the disease was or how to treat it.
As with many non-profit organizations focused on a rare disease, PRF had little money, few connections, and a fairly poor understanding of the disease.  To change that, they knew they had to reach out to the patients and the handful of researchers studying the disease.  Working together is exponentially better than working alone.
The original mission of PRF was to ‘find the cause, treatment and cure for Progeria.’  The first goal of that mission – find the cause – was achieved in 2003. And it was achieved by: 1) finding the patients so that data could begin to be collected; and 2) finding the researchers and asking them questions.
When PRF asked the handful of researcher who had done Progeria studies why they aren’t working more on Progeria, the researcher had many reasons. When a researcher answered ‘there is no funding’, PRF created the PRF Medical Research Grant Program. When a researcher answered ‘there are not biological tools’, PRF created the PRF Cell and Tissue Bank.   When a researcher answered ‘a detailed understanding of the natural history of Progeria is lacking’, PRF created the PRF Medical & Research Database. When a researcher said ‘there is no opportunity to gather scientists and brainstorm ideas and share data’, PRF created PRF’s international scientific conferences.
These and other examples illustrate that right from the beginning, PRF was bringing the Progeria community together so that they could exponentially grow. And they have – prior to 2003, there were less than 2 studies per year published about Progeria. From 2003-2013, there were 458 scientific publications (i.e., 2000% increase). And every year, hundereds of families from all over the world, travel in pairs to Boston to be part of the clinical trials underway thanks to the efforts of PRF.
Increased awareness and funding for the scientific community was only possible by increased public awareness. Prior to 1999, few knew what Progeria was. Now, through PRF’s outreach efforts, millions know about the disease and its far-reaching implications for the aging population. The PRF story has appeared on numerous news and medical programs, and was even the subject of an award winning HBO documentary.

PRF has partnered with a variety of experts in a variety of fields to achieve their goals. And PRF is very mindful that these relationships do not happen quickly. They are time consuming to develop and maintain. Surprisingly, with all of PRF's advancements, they are still a very small organization with a staff of only 7 employees.  Working together is exponentially better than working alone.
Right now, there is no approved treatment for PRF. But they are getting closer. In the meantime, PRF has not only advanced our understanding of Progeria, it has also provided funding for researchers, improved the care and management of Progeria patients, brought families together, educated millions about a disease nobody knew about 15 years ago,  and advanced our understanding of aging & cardiovascular disease.  
Non-profit organizations can learn from PRF’s example and the editorial by Gordon and Gordon is a must read for the rare disease community.


Gordon A, Gordon L. The Progeria Research Foundation: its remarkable journey from obscurity to treatment. 2014 [Online ahead of print]. doi:10.1517/21678707.2014.970172

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