PCORI's Continued Commitment to Researching Rare Diseases

It’s been an eventful year for Scott Berns, MD, MPH. In 2019, Berns and his wife, Leslie Gordon, MD, PhD, were keynote speakers at the PCORI Annual Meeting. Then, in November, Berns was elevated to Chair of PCORI’s Advisory Panel on Rare Disease. In observance of Rare Disease Day, on February 29, Berns discusses the advisory panel's activities and goals.

I was thrilled to become the chair of the PCORI Advisory Panel on Rare Disease in November. As we observe Rare Disease Day on February 29, it’s important for me to take account of what the panel has accomplished in the past, and what we look to do moving forward.  My intention is to build on the past discussions of the Advisory Panel on Rare Disease with an aim to provide the best advice to PCORI leadership on how to serve the needs of the rare disease community.

Dr. Matt Cheung, whom I succeeded as Chair, urged us at our last meeting in the fall to continue to identify cross-cutting research topics that need to be addressed in rare disease—such as sleep disorders and transitions from pediatric to adult care—and to look for ways to tackle the challenges of performing comparative effectiveness research among rare disease populations. And, as always, we’ll continue to identify gaps where research is needed, and advise PCORI on what kinds of rare disease studies could be most beneficial to patients and those who care for them.

In addition to advising PCORI, and in the spirit of the panel’s charter, I think there’s an opportunity for the panel to help galvanize the rare disease field. Personally, I have a two-year opportunity as Chair to connect the dots from my personal and career experiences with the dots at PCORI. As someone who has been personally affected by rare disease and now also works to improve systems of care for those living with sickle cell disease, I am intimately aware of the need for urgent action and increased national momentum (I elaborate more fully on this in a recent article from the National Institute for Children’s Health Quality). I am eager to bring that energy to the panel. I have plans to attend or speak at multiple convenings this spring related to rare disease, including the Chan Zuckerberg Initiative’s Rare as One Network.

But it’s not just me—all of our panelists are connecting dots. Our advisory panel members represent an array of key organizations, research institutions, and families in the rare disease field, and we all have contacts beyond our own organizations and beyond PCORI. We need to leverage those connections, spreading the word about PCORI and bringing back recommendations to PCORI on how to better engage the rare disease research community. In addition, many rare disease advocacy organizations are, by nature, small—both in numbers and in resources. We can raise awareness about and provide access to opportunities through PCORI that these small organizations might not even be aware of.

As I’ve written previously, each rare disease can seem like a grain of sand, but collectively, those grains of sand make up a beach. As we look forward to our panel’s spring meeting, I’m confident that PCORI’s work, and the work of the Advisory Panel on Rare Disease, can bring communities interested in rare disease research together to move forward collectively.

The views expressed here are those of the author(s) and not necessarily those of PCORI.